Bone dysplasias: an atlas of genetic disorders of skeletal development
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2012
|
| Ausgabe: | 3. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXIII, 802 S. zahlr. Ill., graph. Darst. |
| ISBN: | 9780195396089 |
Internformat
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV040637474 | ||
| 003 | DE-604 | ||
| 005 | 20130125 | ||
| 007 | t| | ||
| 008 | 121217s2012 xx ad|| |||| 00||| eng d | ||
| 020 | |a 9780195396089 |9 978-0-19-539608-9 | ||
| 035 | |a (OCoLC)826287185 | ||
| 035 | |a (DE-599)HBZHT017483368 | ||
| 040 | |a DE-604 |b ger |e rakddb | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-355 |a DE-20 | ||
| 082 | 0 | |a 616.71042 | |
| 084 | |a XG 7852 |0 (DE-625)152838:13131 |2 rvk | ||
| 245 | 1 | 0 | |a Bone dysplasias |b an atlas of genetic disorders of skeletal development |c Jürgen W. Spranger ... |
| 250 | |a 3. ed. | ||
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2012 | |
| 300 | |a XXIII, 802 S. |b zahlr. Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 2 | |a Bone Diseases, Developmental |a genetics | |
| 650 | 2 | |a Diagnosis, Differential | |
| 650 | 0 | 7 | |a Dysplasie |0 (DE-588)4127500-7 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Knochenkrankheit |0 (DE-588)4120576-5 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Erbkrankheit |0 (DE-588)4015106-2 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Knochendysplasie |0 (DE-588)4164281-8 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Knochen |0 (DE-588)4128031-3 |2 gnd |9 rswk-swf |
| 655 | 7 | |0 (DE-588)4143303-8 |a Atlas |2 gnd-content | |
| 655 | 2 | |a Atlases | |
| 689 | 0 | 0 | |a Knochendysplasie |0 (DE-588)4164281-8 |D s |
| 689 | 0 | 1 | |a Erbkrankheit |0 (DE-588)4015106-2 |D s |
| 689 | 0 | |8 1\p |5 DE-604 | |
| 689 | 1 | 0 | |a Knochenkrankheit |0 (DE-588)4120576-5 |D s |
| 689 | 1 | 1 | |a Erbkrankheit |0 (DE-588)4015106-2 |D s |
| 689 | 1 | |8 2\p |5 DE-604 | |
| 689 | 2 | 0 | |a Knochen |0 (DE-588)4128031-3 |D s |
| 689 | 2 | 1 | |a Dysplasie |0 (DE-588)4127500-7 |D s |
| 689 | 2 | |8 3\p |5 DE-604 | |
| 700 | 1 | |a Spranger, Jürgen |d 1931-2025 |e Sonstige |0 (DE-588)172382122 |4 oth | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025464589&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 883 | 1 | |8 1\p |a cgwrk |d 20201028 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | |
| 883 | 1 | |8 2\p |a cgwrk |d 20201028 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | |
| 883 | 1 | |8 3\p |a cgwrk |d 20201028 |q DE-101 |u https://d-nb.info/provenance/plan#cgwrk | |
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-025464589 | |
Datensatz im Suchindex
| _version_ | 1827284201483796480 |
|---|---|
| adam_text |
Titel: Bone dysplasias
Autor: Spranger, Jürgen W
Jahr: 2012
CONTENTS
SECTION I SKELETAL DYSPLASIAS WITH
PREDOMINANT METAPHYSEAL INVOLVEMENT 1
1. FGFR3 GROUP 3
1.1 Thanatophoric Dysplasia 3
1.2 Achondroplasia 6
1.3 Hypochondroplasia ll
1.4SADDAN 15
2. METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE 17
3. CARTILAGE-HAIR HYPOPLASIA 20
4. METAPHYSEAL DYSPLASIA, SPAHR TYPE 23
5. SHWACHMAN SYNDROME 25
6. OMENN SYNDROME WITH METAPHYSEAL
Chodnrodysplasia 27
7. METAPHYSEAL ANADYSPLASIA 29
8. METAPHYSEAL (ACRO-)SCYPHODYSPLASIA 33
9. METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE 36
10. EIKEN DYSPLASIA 39
11.CINCA 42
SECTION II SKELETAL DYSPLASIAS
WITH PREDOMINANT EPIPHYSEAL
INVOLVEMENT 45
12. SULFATE TRANSPORTER GROUP 47
12.1 Achondrogenesis, Type IB 47
12.2 Atelosteogenesis, Type II 49
12.3 Diastrophic Dysplasia 51
12.4 Multiple Epiphyseal Dysplasia, Autosomal
Recessive Type 56
13. MULTIPLE EPIPHYSEAL DYSPLASIA,
AUTOSOMAL DOMINANT 58
14. PSEUDOACHONDROPLASIA 64
SECTION III CHONDRODYSPLASIA PUNCTATA GROUP 69
15. GREENBERG DYSPLASIA 71
16. CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT
(CONRADI-HÜNERMANN) 73
17. CONGENITAL HEMIDYSPLASIA, ICHTHYOSIS,
LIMB DEFICIENCY (CHILD) 77
18. CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE 80
19. CHONDRODYSPLASIA PUNCTATA,
BRACHYTELEPHALANGIC TYPE 83
20. CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL
DOMINANTTYPE 86
21. CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE 88
SECTION IV SKELETAL DYSPLASIAS WITH
PROMINENT DIAPHYSEAL INVOLVEMENT 91
22. FILAMINA GROUP 93
22.1 Otopalatodigital Syndrome Type I 94
22.2 Otopalatodigital Syndrome Type II 98
22.3 Melnick-Needles Osteodysplasty 102
22.4 Frontometaphyseal Dysplasia 106
22.5 Frank-ter Haar Syndrome 109
23. FILAMIN B GROUP 112
23.1 Atelosteogenesis Type I/Boomerang Dysplasia 112
23.2 Atelosteogenesis Type III 115
23.3 Larsen Syndrome, Autosomal Dominant 118
23.4 Spondylocarpotarsal Synostosis Syndrome 123
SECTION V SPONDYLOEPIPHYSEAL DYSPLASIAS 125
24. TYPE2 COLLAGEN GROUP 127
24.1 Achondrogenesis, Type II 127
24.2 Hypochondrogenesis 129
24.3 Spondyloepiphyseal Dysplasia, Torrance Type 131
24.4 Spondyloepiphyseal Dysplasia Congenita 134
xlx
24.5 Kniest Dysplasia 139
24.6 Spondyloperipheral Dysplasia 143
24.7 Spondyloepiphyseal Dysplasia with
Metatarsal Shortening 145
24.8 Auosomal dominant Spondyloarthropathy 147
24.9 Vitreoretinopathy with Phalangeal
Epiphyseal Dysplasia 149
24.10 Stickler Dysplasia 151
25. TYPE 11 COLLAGEN GROUP 154
25.1 Fibrochondrogenesis 154
25.2 Otospondylomegaepiphyseal
Dysplasia (OSMED) 156
26. PERLECAN GROUP 159
26.1 Dyssegmental Dysplasia,
Silverman-HandmakerType 159
26.2 Dyssegmental Dysplasia,
Rolland-DesbuqoisType 161
26.3 Schwartz-Jampel Syndrome 164
27. SPONDYLOEPIPHYSEAL DYSPLASIA
TARDA, X-Linked 167
28. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA,
Autosomal Recessive 170
29. AGGRECAN-ASSOCIATED SKELETAL DYSPLASIAS 172
30. SPONDYLOEPIPHYSEAL DYSPLASIA,
WOLCOTT-R ALLI SO N TYPE 175
31. SCHIMKEIMMUNOOSSEOUS DYSPLASIA 178
32. PROGRESSIVE PSEUDORHEUMATOID
CHONDRODYSPLASIA 182
33. SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL
DYSPLASIA 185
40.1 Metatropic Dysplasia 207
40.2 Spondyloepimetaphyseal
Dysplasia, Maroteaux Type 213
40.3 Spondylometaphyseal Dysplasia,
Kozlowski Type 216
40.4 Brachyolmia, Autosomal Dominant 219
41. BRACHYOLMIA, Autosomal Recessive 221
42. DYGGVE-MELCHIOR-CLAUSEN DYSPLASIA 223
43. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHORT
LIMB-ABNORMAL CALCIFICATION TYPE 227
44. SPONASTRIME DYSPLASIA 231
45. SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH
LEPTODACTYLY 234
46. CHONDRODYSPLASIA WITH CONGENITAL JOINT
DISLOCATIONS, CST3 -RELATED 237
47. DESBUQUOIS SYNDROME 239
48.CHONDRODYSPLASIA WITH JOINT DISLOCATIONS,
gPAPP TYPE 243
49. PSEUDODIASTROPHIC DYSPLASIA 246
50. SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH
JOINT LAXITY 249
SECTION VIII SEVERE SPONDYLODYSPLASTIC
DYSPLASIAS 253
51. ACHONDROGENESIS TYPE 1A 255
52. SCHNECKENBECKEN DYSPLASIA 257
53. OPSISMODYSPLASIA 259
SECTION VI SPONDYLOMETAPHYSEAL DYSPLASIAS 187
34. SPONDYLOMETAPHYSEAL DYSPLASIA,
SEDAGHATIAN TYPE 189
35. ODONTOCHONDRODYSPLASIA 191
36. SPONDYLOMETAPHYSEAL DYSPLASIA,
SUTCLIFFE/CORNER FRACTURE TYPE 193
37. SPONDYLOENCHONDRODYSPLASIA 196
38. SPONDYLOMETAPHYSEAL DYSPLASIA WITH
CONE-ROD DYSTROPHY 199
39. AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA 202
SECTION VII SPONDYLOEPIMETAPHYSEAL
DYSPLASIAS 205
40. TRPV4 GROUP 207
SECTION IX SHORT-RIB (-POLYDACTYLY)
DYSPLASIAS 263
54. ASPHYXIATING THORACIC DYSPLASIA 265
55. ELLIS-VAN CREVELD SYNDROME 269
56. CHONDROECTODERMAL DYSPLASIA 273
57. THORACOLARYNGOPELVIC DYSPLASIA 276
58. SHORT RIB (-POLYDACTYLY) SYNDROME
SALDINO-NOONAN-VERMA-NAUMOFFTYPE 279
59. SHORT RIB (-POLYDACTYLY) SYNDROME, BEEMER-LANGER
TYPE. SRP, MAJEWSKI TYPE 281
60. OROFACIODIGITAL SYNDROME TYPE IV (MOHR-MAJEWSKI) 283
SECTION X RHIZOMELIC/MESOMELIC DYSPLASIAS 287
61. OMODYSPLASIA, AUTOSOMAL RECESSIVE 289
XX
CONTENTS
62. ROBINOW SYNDROME 292
63. DYSCHONDROSTEOSIS 295
64. LANGER MESOMELIC DYSPLASIA 297
65. MESOMELIC DYSPLASIA, KANTAPUTRATYPE 300
66. MESOMELIC DYSPLASIA, WERNER TYPE 303
67. MESOMELIC DYSPLASIA,
KOZLOWSKI-REARDON TYPE 306
68. MESOMELIC DYSPLASIA, NIEVERGELT-
SAVARIRAYAN TYPE 308
69. MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES 312
SECTION XI ACROMESOMELIC DYSPLASIAS 315
70. ACROMESOMELIC DYSPLASIA, MAROTEAUXTYPE 317
71. GREBE DYSPLASIA 320
SECTION XII ACROMELIC DYSPLASIAS 325
72. ISOLATED BRACHYDACTYUES 327
72.1 BrachydactylyAl 327
72.2 Brachydactyly B 329
72.3 BrachydactylyC 331
72.4 Brachydactyly D 334
72.5 Brachydactyly E 335
72.6 Brachydactyly, Christian type 337
73. TRICHORHINOPHALANGEAL DYSPLASIA, TYPE I 339
74. TRICHORHINOPHALANGEAL DYSPLASIA, TYPE II 342
75. ACROCAPITOFEMORAL DYSPLASIA 344
76. ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA 347
77. ALBRIGHT HEREDITARY OSTEODYSTROPHY 349
78. ACRODYSOSTOSIS 355
79. MARSHALL-SMITH SYNDROME 357
80. GELEOPHYSIC DYSPLASIA 360
81. ACROMICRIC DYSPLASIA 363
82. CRANIOECTODERMAL DYSPLASIA 366
83. SALDINO-MAINZER DYSPLASIA 369
84. FAMILIAL DIGITAL ARTHROPATHY WITH
BRACHYDACTYLY 371
SECTION XIII BENT BONE DYSPLASIAS 375
85. CAMPOMELIC DYSPLASIA 377
86. COUSIN DYSPLASIA 381
87. CUMMING DYSPLASIA 383
SECTION XIV SLENDER BONE DYSPLASIAS 385
88. 3M SYNDROME 387
89. KENNY-CAFFEY DYSPLASIA 389
90. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL
DWARFISM, TYPE 1 392
91. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL
DWARFISM, TYPE 2 395
92. IMAGE SYNDROME 398
93. OSTEOCRANIOSTEOSIS 400
SECTION XV DENSE BONE DYSPLASIAS
WITH NORMAL BONE SHAPE 403
94. BLOMSTRAND CHONDRODYSPLASIA 405
95. OSTEOPETROSES 407
95.1 Raine Dysplasia 409
95.2 Osteopetrosis, Infantile 412
95.3 Osteopetrosis, Intermediate 415
95.4 Osteopetrosis, Late Onset Forms 418
95.5 Osteopetrosis with Renal Tubular Acidosis 422
96. DYSOSTEOSCLEROSIS 426
97. PYKNODYSOSTOSIS 431
98. OSTEOMESOPYKNOSIS 434
99. OSTEOPETROSIS, ECTODERMAL DYSPLASIA,
IMMUNE DEFECT 436
100. OSTEOPOIKILOSIS 439
101. MELORHEOSTOSIS 441
102. OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 444
SECTION XVI DENSE BONE DYSPLASIAS
WITH META-DIAPHYSEAL MODELING DEFECTS 449
103. INFANTILE CORTICAL HYPEROSTOSIS 451
104. OSTEOECTASIA WITH HYPERPHOSPHATASIA 454
105. ENDOSTEAL HYPEROSTOSIS, VAN BUCHEM TYPE 458
106. DIAPHYSEAL DYSPLASIA, CAMURATI ENGELMANN 461
107. DIAPHYSEAL DYSPLASIA WITH ANEMIA (GHOSAL) 466
108. LENZ-MAJEWSKI HYPEROSTOTIC DYSPLASIA 468
CONTENTS
xxl
109. PACHYDERMOPERIOSTOSIS 473
110. CURRARINO HYPERTROPHIC OSTEOARTHROPATHY 477
111. DIAPHYSEAL MEDULLAR STENOSIS WITH
BONE MALIGNANCY 480
112. SCLEROSTEO-CEREBELLAR SYNDROME 483
113. CRANIODIAPHYSEAL DYSPLASIA 486
114. CRANIOMETAPHYSEAL DYSPLASIA 489
115. PYLE DISEASE 492
116. METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERTTYPE 495
117. OCULODENTOOSSEOUS DYSPLASIA 497
118. TRICHODENTOOSSEOUS DYSPLASIA 501
SECTION XVII DYSPLASIAS WITH DECREASED
BONE DENSITY 503
119. OSTEOGENESIS IMPERFECTA 505
119.1 Osteogenesis Imperfecta Type I 507
119.2 Osteogenesis Imperfecta Type IIA 512
119.3 Osteogenesis Imperfecta TypellC 514
119.4 Osteogenesis Imperfecta Type lll/IIB 516
119.5 Osteogenesis Imperfecta Type IV and V 521
120. JUVENILE IDIOPATHIC OSTEOPOROSIS 524
121. BRUCK SYNDROME 527
122. SINGLETON-MERTEN SYNDROME 530
123. GERODERMA OSTEODYSPLASTICUM 533
124. WEISMANN-NETTER TOXOPACHYOSTEOSIS 536
125. CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS
SYNDROME 539
126. COLE-CARPENTER DYSPLASIA 541
127. SPONDYLOOCULAR DYSPLASIA 544
128. GNATHODIAPHYSEAL DYSPLASIA 546
SECTION XVIII DYSPLASIAS WITH
DEFECTIVE MINERALIZATION 549
129. HYPOPHOSPHATASIA 551
130. NEONATAL SEVERE PRIMARY
HYPERPARATHYROIDISM 557
131. HEREDITARY RICKETS 559
SECTION XIX LYSOSOMAL STORAGE
DISEASES WITH SKELETAL INVOLVEMENT
(DYSOSTOSIS MULTIPLEX) 563
132. MUCOPOLYSACCHARIDOSES 565
132.1 Mucopolysaccharidosis l-H 567
132.2 Mucopolysaccharidosis l-H Variants 571
132.3 Mucopolysaccharidosis II 574
132.4 Mucopolysaccharidosis III 578
132.5 Mucopolysaccharidosis IV 582
132.6 Mucopolysaccharidosis VI 588
132.7 Mucopolysaccharidosis VII 592
133. MUCOLIPIDOSES 595
133.1 Mucolipidosis II 595
133.2 Mucolipidosis III 601
134. OLIGOSACCHARIDOSES 605
134.1 GM1 Gangliosidosis, Infantile/Juvenile Type 605
134.2 GM1 Gangoiosidosis, Adult Type 609
134.3 Sialidosis/Galactosialidosis 611
134.4 a-Mannosidosis 615
134.5 Fucosidosis 619
134.6 Aspartylglucosaminuria 622
134.7 Sialic Acid Storage Disease 625
134.8 Multiple Sulfatase Deficiency 628
SECTION XX OSTEOLYSES 631
135. FAMILIAL EXPANSILE OSTEOLYSIS 633
136. INFANTILE SYSTEMIC HYALINOSIS/JUVENILE HYALINE
FIBROMATOSIS 635
137. MANDIBULOACRAL DYSPLASIA 638
138. PROGERIA 641
139. WINCHESTER-TORG SYNDROME 644
140. HAJDU-CHENEYOSTEOLYSIS 647
141. MULTICENTRIC CARPAL-TARSAL OSTEOLYSIS 651
SECTION XXI. DISORGANIZED DEVELOPMENT
OF SKELETAL COMPONENTS 655
142 FIBROUS DYSPLASIA 657
143. CHERUBISM 662
144. PROGRESSIVE OSSEOUS H ETEROPLASIA 664
145. MULTIPLE CARTILAGINOUS EXOSTOSES 667
xxli
CONTENTS
146. OSTEOGLOPHONIC DYSPLASIA 671
147. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 675
148. DYSPLASIA EPIPHYSEALIS HEMIMELICA 678
149. ENCHONDROMATOSIS (OLLIER DISEASE) 681
150. METAPHYSEAL CHONDROMATOSIS WITH
2-HYDROXYGLUTARIC ACIDURIA 685
151. GENOCHONDROMATOSIS 687
152. METACHONDROMATOSIS 689
SECTION XXII CLEIDOCRANIAL DYSPLASIAS 691
153. CLEIDOCRANIAL DYSPLASIA 693
154. YUNIS-VARON SYNDROME 698
155. CDAGS SYNDROME 700
SECTION XXIII CRANIO SYNOSTOSIS
SYNDROMES (SELECTED) 701
156. APERTSYNDROME 703
157. PFEIFFER SYNDROME 708
158. ANTLEY-BIXLER SYNDROME 710
159. SAETHRE-CHOTZEN SYNDROME 714
160. BALLER-GEROLDSYNDROME 716
161. CARPENTER SYNDROME 718
162. MUENKE SYNDROME 721
SECTION XXIV COSTOVERTEBRAL
DYSOSTOSES (SELECTED) 723
163. SPONDYLOCOSTAL DYSOSTOSES 725
164. JARCHO-LEVIN SYNDROME 727
165. CEREBROCOSTOMANDIBULAR SYNDROME 729
166. ISCHIOSPINAL DYSOSTOSIS 732
SECTION XXV LIMB A/HYPOPLASIAS (SELECED) 737
167. ROBERTS/SC PHOCOMELIA SYNDROME 739
168. ECTRODACTYLY-ECTODERMAL
DYSPLASIA-CLEFT LIP/PALATE SYNDROME
AN D ISOLATED ECTRODACTYLY 741
169. FEMORAL HYPOPLASIA-UNUSUAL
FACIES SYNDROME 745
170. FEMUR-FIBULA-ULNA SYNDROME 748
171. NAIL-PATELLA SYNDROME 751
172. ISCHIOPATELLAR DYSPLASIA 753
SECTION XXVI ACRAL AND OTHER
DYSOSTOSES (SELECTED) 757
173. KEUTEL SYNDROME 759
174. CATEL-MANZKE SYNDROME 761
175. POLAND SYNDROME 763
176. GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 765
SECTION XXVII DISORDERS CAUSED BY
DEFECTIVE JOINT FORMATION 767
177. MULTIPLE SYNOSTOSIS SYNDROME 769
ADDENDUM NOSOLOGY AND CLASSIFICATION
OF SKELETAL DISORDERS* 773
INDEX 797
* Adapted from 'Nosology and Classification of skeletal disorders, : 2010 Revision, by Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M,
Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Am J Med Genet A. 2011
155A:943-968.
CONTENTS
xxiil |
| any_adam_object | 1 |
| author_GND | (DE-588)172382122 |
| building | Verbundindex |
| bvnumber | BV040637474 |
| classification_rvk | XG 7852 |
| ctrlnum | (OCoLC)826287185 (DE-599)HBZHT017483368 |
| dewey-full | 616.71042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.71042 |
| dewey-search | 616.71042 |
| dewey-sort | 3616.71042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 3. ed. |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>00000nam a2200000 c 4500</leader><controlfield tag="001">BV040637474</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20130125</controlfield><controlfield tag="007">t|</controlfield><controlfield tag="008">121217s2012 xx ad|| |||| 00||| eng d</controlfield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9780195396089</subfield><subfield code="9">978-0-19-539608-9</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)826287185</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)HBZHT017483368</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rakddb</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield><subfield code="a">DE-20</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.71042</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">XG 7852</subfield><subfield code="0">(DE-625)152838:13131</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Bone dysplasias</subfield><subfield code="b">an atlas of genetic disorders of skeletal development</subfield><subfield code="c">Jürgen W. Spranger ...</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">3. ed.</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Oxford [u.a.]</subfield><subfield code="b">Oxford Univ. Press</subfield><subfield code="c">2012</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">XXIII, 802 S.</subfield><subfield code="b">zahlr. Ill., graph. Darst.</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="650" ind1=" " ind2="2"><subfield code="a">Bone Diseases, Developmental</subfield><subfield code="a">genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="2"><subfield code="a">Diagnosis, Differential</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Dysplasie</subfield><subfield code="0">(DE-588)4127500-7</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Knochenkrankheit</subfield><subfield code="0">(DE-588)4120576-5</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Knochendysplasie</subfield><subfield code="0">(DE-588)4164281-8</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Knochen</subfield><subfield code="0">(DE-588)4128031-3</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4143303-8</subfield><subfield code="a">Atlas</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="655" ind1=" " ind2="2"><subfield code="a">Atlases</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Knochendysplasie</subfield><subfield code="0">(DE-588)4164281-8</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="8">1\p</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="689" ind1="1" ind2="0"><subfield code="a">Knochenkrankheit</subfield><subfield code="0">(DE-588)4120576-5</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="1" ind2="1"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="1" ind2=" "><subfield code="8">2\p</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="689" ind1="2" ind2="0"><subfield code="a">Knochen</subfield><subfield code="0">(DE-588)4128031-3</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="2" ind2="1"><subfield code="a">Dysplasie</subfield><subfield code="0">(DE-588)4127500-7</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="2" ind2=" "><subfield code="8">3\p</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Spranger, Jürgen</subfield><subfield code="d">1931-2025</subfield><subfield code="e">Sonstige</subfield><subfield code="0">(DE-588)172382122</subfield><subfield code="4">oth</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025464589&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="883" ind1="1" ind2=" "><subfield code="8">1\p</subfield><subfield code="a">cgwrk</subfield><subfield code="d">20201028</subfield><subfield code="q">DE-101</subfield><subfield code="u">https://d-nb.info/provenance/plan#cgwrk</subfield></datafield><datafield tag="883" ind1="1" ind2=" "><subfield code="8">2\p</subfield><subfield code="a">cgwrk</subfield><subfield code="d">20201028</subfield><subfield code="q">DE-101</subfield><subfield code="u">https://d-nb.info/provenance/plan#cgwrk</subfield></datafield><datafield tag="883" ind1="1" ind2=" "><subfield code="8">3\p</subfield><subfield code="a">cgwrk</subfield><subfield code="d">20201028</subfield><subfield code="q">DE-101</subfield><subfield code="u">https://d-nb.info/provenance/plan#cgwrk</subfield></datafield><datafield tag="943" ind1="1" ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-025464589</subfield></datafield></record></collection> |
| genre | (DE-588)4143303-8 Atlas gnd-content Atlases |
| genre_facet | Atlas Atlases |
| id | DE-604.BV040637474 |
| illustrated | Illustrated |
| indexdate | 2025-03-22T09:00:11Z |
| institution | BVB |
| isbn | 9780195396089 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-025464589 |
| oclc_num | 826287185 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-20 |
| owner_facet | DE-355 DE-BY-UBR DE-20 |
| physical | XXIII, 802 S. zahlr. Ill., graph. Darst. |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| spelling | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ... 3. ed. Oxford [u.a.] Oxford Univ. Press 2012 XXIII, 802 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Bone Diseases, Developmental genetics Diagnosis, Differential Dysplasie (DE-588)4127500-7 gnd rswk-swf Knochenkrankheit (DE-588)4120576-5 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Knochendysplasie (DE-588)4164281-8 gnd rswk-swf Knochen (DE-588)4128031-3 gnd rswk-swf (DE-588)4143303-8 Atlas gnd-content Atlases Knochendysplasie (DE-588)4164281-8 s Erbkrankheit (DE-588)4015106-2 s 1\p DE-604 Knochenkrankheit (DE-588)4120576-5 s 2\p DE-604 Knochen (DE-588)4128031-3 s Dysplasie (DE-588)4127500-7 s 3\p DE-604 Spranger, Jürgen 1931-2025 Sonstige (DE-588)172382122 oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025464589&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 2\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 3\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Bone dysplasias an atlas of genetic disorders of skeletal development Bone Diseases, Developmental genetics Diagnosis, Differential Dysplasie (DE-588)4127500-7 gnd Knochenkrankheit (DE-588)4120576-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Knochendysplasie (DE-588)4164281-8 gnd Knochen (DE-588)4128031-3 gnd |
| subject_GND | (DE-588)4127500-7 (DE-588)4120576-5 (DE-588)4015106-2 (DE-588)4164281-8 (DE-588)4128031-3 (DE-588)4143303-8 |
| title | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_auth | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_exact_search | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_full | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ... |
| title_fullStr | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ... |
| title_full_unstemmed | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ... |
| title_short | Bone dysplasias |
| title_sort | bone dysplasias an atlas of genetic disorders of skeletal development |
| title_sub | an atlas of genetic disorders of skeletal development |
| topic | Bone Diseases, Developmental genetics Diagnosis, Differential Dysplasie (DE-588)4127500-7 gnd Knochenkrankheit (DE-588)4120576-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Knochendysplasie (DE-588)4164281-8 gnd Knochen (DE-588)4128031-3 gnd |
| topic_facet | Bone Diseases, Developmental genetics Diagnosis, Differential Dysplasie Knochenkrankheit Erbkrankheit Knochendysplasie Knochen Atlas Atlases |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025464589&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT sprangerjurgen bonedysplasiasanatlasofgeneticdisordersofskeletaldevelopment |