Genetic disorders of human sexual development:
Gespeichert in:
| Hauptverfasser: | , , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
New York [u.a.]
Oxford Univ. Press
1999
|
| Schriftenreihe: | Oxford monographs on medical genetics
38 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 410 S. Ill. |
| ISBN: | 0195109074 |
Internformat
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| 100 | 1 | |a Pinsky, Leonard |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Genetic disorders of human sexual development |c Leonard Pinsky ; Robert P. Erickson ; R. Neil Schimke |
| 264 | 1 | |a New York [u.a.] |b Oxford Univ. Press |c 1999 | |
| 300 | |a 410 S. |b Ill. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 1 | |a Oxford monographs on medical genetics |v 38 | |
| 650 | 4 | |a Developmental disabilities |x Genetic aspects | |
| 650 | 4 | |a Generative organs |x Abnormalities |x Genetic aspects | |
| 650 | 4 | |a Gonadal Disorders |x genetics | |
| 650 | 4 | |a Molecular Biology | |
| 650 | 4 | |a Sex Chromosome Disorders |x genetics | |
| 650 | 4 | |a Sex Chromosomes |x genetics | |
| 650 | 4 | |a Sex chromosome abnormalities | |
| 650 | 4 | |a Sex differentiation disorders |x Genetic aspects | |
| 650 | 4 | |a Sexual Maturation |x genetics | |
| 650 | 4 | |a Sexual disorders |x Genetic aspects | |
| 650 | 0 | 7 | |a Sexuelle Entwicklung |0 (DE-588)4121668-4 |2 gnd |9 rswk-swf |
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| 689 | 0 | 1 | |a Erbkrankheit |0 (DE-588)4015106-2 |D s |
| 689 | 0 | |5 DE-604 | |
| 700 | 1 | |a Erickson, Robert P. |e Verfasser |4 aut | |
| 700 | 1 | |a Schimke, Robert N. |e Verfasser |4 aut | |
| 830 | 0 | |a Oxford monographs on medical genetics |v 38 |w (DE-604)BV000008339 |9 38 | |
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Datensatz im Suchindex
| _version_ | 1804127350795796480 |
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| adam_text | Contents
I Normal Gonadal and Sexual Development
1. The Embryology of Normal Gonadal and Genital Development, 3
Development of the gonads, 4 • Development of the genital ducts,
6 • Development of the external genitalia, 8
2. Sex Chromosome and Autosome Contributions to Normal Gonadal
Development, 11
Sex Chromosomes, 11
The Y chromosome is male determining, 11 • SRY is TDF, 12 • SRY as a
transcriptional (transacting) factor, 15 • When does SRY (Sry) work?,
17 • The roles of the X chromosome in gonadal development, 21
Autosomal Chromosomes, 24
Sex determination involves a cascade of gene expression, 24 • Some autosomal
genes already implicated, 24
Conclusions, 27
3. Introductory Biochemistry and Endocrinology of Sexual Development, 39
Primary sexual development, 39 • Secondary sexual development,
41 • Steroidogenic factor (SF 1), 42 • DAX 1, 43 • Steroid biosynthesis, 44
II Clinical Approach
4. The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual
Development, 51
Diagnosis, 51 • Sex assignment, 53 • Sex reassignment, 54 • Therapy,
54 • Counseling, 56
xi
i
xii CONTENTS
III Gonadal Maldevelopment
5. Y Chromosome Aberrations, 61
Alterations in SRY causing gonadal dysgenesis, 61 • SRY+, ZFY~ individuals,
66 • Azoospermia and Yq alterations, 67
6. X Chromosome Aberrations, 73
Genomic Mutations, 74
Turner syndrome, 74 • Klinefelter syndrome, 81 • XX/XY mosaic true
hermaphroditism and X/XY mosaicism, 86
Chromosomal Mutations, 88
Xp21 duplications in 46,XY females, 88 • Ovarian failure with chromosomal
mutations of Xq, 92 • 46,XX males with SRY, 94
X Linked Single Gene Disorders: Male Pseudohermaphroditism in the
X Linked a Thalassemia/Mental Retardation Syndrome, 100
7. Autosomal Disorders, 104
Genomic/Chromosomal Disorders, 104
Chromosome 9 alterations, 104 • Chromosome 10 alterations, 106 • 46,XX
true hermaphroditism and sex reversal in the absence of SRY; Trisomy 22 is
sometimes involved, 109
Autosomal Single Gene Disorders, 112
Denys Drash and Frasier syndromes and WT1,112 • Camptomelic dysplasia
and SOX9,116 • Ovarian dysgenesis (with deafness; Perrault syndrome), 122
8. Absence of the Gonads, 124
IV Sexual Maldevelopment
9. Genetic Disorders of the Anti Mullerian Hormone (AMH) and its
Receptor, 131
10. Genetic Disorders Expressed by Gonadotropin Insufficiency, 136
Molecular biology of the gonadotropins, the gonadotropin releasing hormone, and
its receptor, 136 • Hypothalamic hypogonadism due to defective migration of
GnRH neurons from the olfactory placode to the hypothalamus: Kallmann
syndrome, 139 • Hypogonadotropic hypogonadism (HHG): a pubertal
expression of DAX1 mutation causing X linked adrenal hypoplasia congenita
(AHC), 142 • Partial hypogonadotropic hypogonadism due to mutation of the
GnRH receptor, 144 • Primary amenorrhea and oligo/azoospermia due to FSH
deficiency that causes granulosa cell dysfunction in women and Sertoli cell
dysfunction in men: FSH P gene mutation, 147 • LHP gene mutation that
disables LH binding to the LH receptor and causes total pubertal failure in
homozygous males but apparently isolated infertility in heterozygous males,
150 • LHP gene mutation possibly associated with menstrual disorder and
infertility in Japan, 151
Contents xiii
11. Genetic Disorders of Gonadotropin Action, 154
Molecular and cellular biology of the gonadotropin receptors, 154
Genetic Disorders of the Chorionic Gonadotropin (CG)/Luteinizing
Hormone (LH) Receptor, 157
Impaired masculinization of males and ovarian dysfunction in females due to CG/
LH receptor mutations that cause testicular and ovarian resistance to CG/LH,
157 • Pseudoprecocious puberty in males: constitutive Leydig cell hyperactivity
due to LH receptor mutations that provoke ligand independent receptor activity
(Familial testotoxicosis), 162
Genetic Disorders of the Post LH Receptor Cascade, 167
Underactivity of Gsa leading to multihormone, including gonadotropin, resistance
in pseudohypoparathyroidism la; Albright s hereditary osteodystrophy, 167
• Underactivity of Gsa leading to PHP la combined with constitutively active
Leydig cell Gsa leading to male precocious puberty, 170 • Somatic Gsa
activating mutations in McCune Albright syndrome, 170
Genetic Disorders of the Follicle stimulating Hormone Receptor
(FSHR), 174
Hypergonadotropic ovarian failure and variable impairment of spermatogenesis
due to FSHR mutation that causes resistance to FSH, 174 • Sustained
spermatogenesis due to FSHR mutation that activates the receptor in the absence of
FSH, 178
12. Genetic Disorders Expressed as Gonadotropin Excess, 180
Familial Non syndromal Sexual Precosity, 181
Familial central isosexual precocity in girls, 181 • Familial central isosexual
precocity in boys and girls, 183 • Familial isosexual precocity in a boy and
heterosexual precocity in a girl associated with LH excess, 184
Precocious puberty associated with various genetic syndromes or birth
defects, 185
Primary hypothyroidism, 185 • Neurofibromatosis, type 1 (NF 1),
186 • Hypothalamic hamartomas, 186 • Kabuki makeup syndrome,
187 • Septo optic dysplasia, 187 • Cohen syndrome, 187 • Mobius
syndrome, 188 • Fragile X syndrome, 188 • Tuberous sclerosis,
189 • Klinefelter syndrome, 189 • The Peutz Jeghers syndrome, 190 • The
Carney complex, 190 • Glucocorticoid resistance, 190
13. Genetic Disorders of Steroidogenesis, 192
Genetic Disorders of Sex Steroidogenesis, 193
Male pseudohermaphroditism due to 17|} hydroxysteroid dehydrogenase type 3
deficiency, 193 • Gynecomastia (with or without impotence or decreased libido)
possibly due to late onset testicular 17P HSD type 3 deficiency, 197 • Polycystic
ovary disease possibly due to ovarian 17fJ HSD type 1 deficiency, 198 • Male
pseudohermaphroditism due to steroid 5a reductase, type 2 (5a R2) deficiency, 198
Genetic Disorders of Aromatase Activity, 203
Aromatase deficiency: a cause of female pseudohermaphroditism with maternal
virilization, 205 • Primary isolated aromatase excess: a cause of gynecomastia in
xiv Contents
males and of isosexual precocity in females, 211 • Primary syndromal
aromatase excess: ovary or testis rumors in Peutz Jeghers syndrome, 213
Genetic Disorders of Combined Adrenocortical and Sex
Steroidogenesis, 217
The Smith Lemli Opitz syndrome: a probable example of combined defective
steroidogenesis due to deficient synthesis of cholesterol de novo,
218 • Congenital lipoid adrenal hyperplasia (CLAH): Deficient cytochrome P450
side chain cleavage (P450scc) activity due to mutation in the steroidogenic acute
regulatory (StAR) protein as a cause of male pseudohermaphroditism,
222 • P450cl7 deficiency, 226 • Generic disorders of 3P hydroxysteroid
dehydrogenase/A5 »A4 ene isomerase (3P HSD), 230 • Classic (C; congenital)
and nonclassic (NC; late onset) adrenal hyperplasia (AH) due to 21 hydroxylase
(P450c21) deficiency, 233 • ll(J hydroxylase deficiency, 238
14. Generic Disorders of Sex Hormone Sensitivity, 241
Generic disorders of the androgen receptor (AR), 242 • Genetic disorders of
the estrogen receptor (ER), 254
15. Syndromes with Sexual Maldevelopment, 258
Aarskog Scott syndrome (faciogenital dysplasia), 259 • Ablepharon
macrostomia, 260 • Abruzzo Erickson syndrome, 260 • Acrodysostosis,
261 • Acro renal mandibular syndrome, 261 • Al Awadi alopecia
hypogonadism syndrome, 262 • Alopecia anosmia deafness syndrome, 262
• Alstrom syndrome, 264 • Anophthalmia esophageal genital syndrome,
265 • Ataxia hypogonadism syndrome, 265 • Ataxia telangiectasia,
266 • Bardet Biedl syndrome, 267 • Beckwith Wiedemann syndrome (EMG
syndrome), 268 • Beemer lethal malformation syndrome, 269 • Belgian
mental retardation syndrome, 269 • Biemond syndrome, 270 • Bird headed
dwarfism syndromes (Seckel syndrome and others), 270 • Blepharochalasis
syndrome, 271 • Blepharophimosis ptosis epicanthus inversus syndrome (BPES),
271 • Bloom syndrome, 272 • Borjeson Forssman Lehmann syndrome,
272 • Brachio skeletal genital syndrome (Elsahy Waters syndrome),
273 • Branchial arch syndrome, 274 • Brosnan syndrome, 274 • C
syndrome (Opitz trigonocephaly syndrome), 274 • Camptobrachydactyly
(Edwards Gale syndrome), 275 • Cardiomyopathy hypogonadism syndrome,
275 • Cardio pulmonary genital syndrome, 276 • Cataracts and
hypogonadism (Bassoe Lubinsky syndrome), 276 • Cerebrohepatorenal
syndrome (Zellweger syndrome), 277 • Chudley mental retardation syndrome,
277 • Chudley syndrome, 277 • Cockayne syndrome, 278 • Cohen
syndrome, 278 • Conductive deafness, with pinna malformations and
hypogonadism, 279 • Congenital severe mixed deafness and hypogonadism,
279 • Craniosynostosis, 280 • Cryptophthalmos syndrome (Fraser syndrome),
282 • de Lange syndrome, 282 • Devriendt Legius Fryns syndrome,
283 • Dubowitz syndrome, 283 • Dyskeratosis congenita (Zinsser Cole
Engman syndrome), 284 • EEC (ectrodactyly ectodermal defects clefting)
syndrome, 284 • Edwards syndrome, 284 • Ellis van Creveld syndrome
(chondroectodermal dysplasia), 285 • Fanconi panmyelopathy, 285 • Femoral
hypoplasia unusual fades syndrome (femoral facies syndrome), 286 • FG
syndrome (Opitz Kaveggia syndrome), 286 • Floating Harbor syndrome,
Contents xv
287 • Fryns syndrome, 287 • Genito palatal cardiac syndrome (Gardner
Silengo Wachtel syndrome), 288 • Goeminne syndrome, 288 • Gorlin
syndrome (basal cell nevus syndrome), 289 • Gorlin Chaudhry Moss syndrome,
290 • Halal syndrome, 290 • Hallerman Streiff syndrome, 290 • Hand foot
genital syndrome, 291 • Hydrolethalus syndrome, 291 • Ieshima syndrome,
292 • Jarcho Levin syndrome, 292 • Jennings syndrome, 293 • Johanson
Blizzard syndrome, 293 • Kraus Ruppert syndrome, 293 • Laurence Moon
syndrome, 294 • Lenz Majewski syndrome, 294 • Lenz microphthalmia
syndrome, 294 • LEOPARD syndrome, 295 • Limb/pelvis hypoplasia/
aplasia syndrome, 295 • Lissencephaly, 296 • Lundberg syndrome,
297 • Marden Walker syndrome, 297 • Martolf syndrome,
297 • McKusick Kaufman syndrome, 298 • Meckel syndrome, 298 • Micro
syndrome, 299 • Microcephaly and primary hypogonadism, 299 • Mobius
sequence with peripheral neuropathy and hypogonadism, 300 • Myotubular
myopathy (centronuclear myopathy), 300 • Myotonic dystrophy, 301 • N
syndrome, 301 • Naguib Richieri Costa syndrome (acrofrontonasal dysostosis),
301 • Neu Laxova syndrome, 302 • Neurofibromatosis (von Recklinghausen
disease), 302 • Nijmegen breakage syndrome, 302 • Noonan syndrome,
303 • Norrie disease, 304 • Oculocerebral syndrome (Cross syndrome),
304 • Oculocerebrorenal syndromes, 305 • Opitz G/BBB compound
syndrome, 305 • Oto facio osseous gonadal syndrome, 306 • Oto palatal
digital syndrome—type n, 306 • Pallister Hall syndrome, 306 • Perlman
syndrome, 307 • Peters plus syndrome, 307 • Pterygium syndromes,
308 • Renal dysplasia limb defects (RL) syndrome, 308 • Restrictive
dermopathy, 309 • Retinitis pigmentosa and hypogonadism, 309 • Rieger
syndrome (iris dental dysplasia), 309 • Roberts syndrome (pseudothalidomide
syndrome, SC syndrome), 310 • Robinow syndrome, 310 • Rothmund
Thompson syndrome, 311 • Rubinstein Taybi syndrome, 311 • Riidiger
syndrome, 312 • Ruvalcaba syndrome, 312 • Schinzel Giedeon syndrome,
312 • Schmitt Gillenwater Kelly syndrome, 313 • Septo optic dysplasia (De
Morsier syndrome), 313 • Shilback Rort syndrome, 313 • Short rib
polydactyly syndromes, 314 • Silver Russell syndrome, 314 • Simpson Golabi
Behmel syndrome, 315 • Sohval Soffer syndrome, 315 • Spastic paraplegia
and sex reversal, 316 • Ulnar Mammary syndrome (Schinzel syndrome),
316 • Urban Rogers Meyer syndrome, 316 • Urioste syndrome, 317 • Van
Benthem syndrome, 317 • Walker Warburg syndrome (HARD ± E syndrome),
317 • Werner syndrome, 318 • Wiedemann syndrome, 318 • Winter
syndrome, 319 • Xeroderma pigmentosum, 319 • XK aprosencephaly
syndrome (Garcia Lurie syndrome), 320 • X linked mental retardation,
gynecomastia, and hypogonadism, 320
16. Non Syndromal Abnormalities of Sexual Development in Males and
Females, 321
Abnormalities in Males, 322
Cryptorchidism, 322 • Testicular torsion, 322 • Testicular exstrophy,
323 • Absence of the vas deferens, 323 • Epididymis defects, 323 • Scrotal
agenesis, 324 • Hypospadias, 324 • Micropenis, 325 • Penile torsion,
325 • Penoscrotal transposition, 326 • Peyronie s disease, 326 • CHARGE
association, 327
xvi Contents
Abnormalities in Females, 327
Clitoromegaly, 327 • Labial fusion, 328 • Vaginal septa, 328 • Vaginal
atresia (vaginal agenesis), 328 • Mullerian aplasia, 329 • Mullerian fusion
defects, 329 • Double uterus, 330 • Absence of ovary and fallopian tube,
330 • Female pseudohermaphroditism with multiple caudal abnormalities, 330
Abnormalities in Both Sexes, 334
Bladder exstrophy, 334 • Caudal dysplasia (caudel regression sequence),
335 • Caudal duplication, 336 • Cloacal exstrophy sequence,
336 • Diphallus, 337 • Fetal akinesia sequence (Pena Shokeir I syndrome),
337 • Limb body wall sequence, 337 • Polyorchidism, 338 • Prune belly
sequence (Eagle Barrett syndrome, triad syndrome), 338 • Sirenomelia sequence,
339 • Splenogonadal fusion, 340 • Urogenital adysplasia, 340 • Urorectal
malformation sequence, 341 • VATER (VACTERL) association, 342
17. Systemic Disorders of Sexual Development with Gonadal Dysfunction, 343
Genetic Disorders, 343
Carbohydrate deficient glycoprotein syndrome, 343 • Celiac disease,
345 • Congenital panhypopituitary dwarfism (CPHD), 346 • Cystic fibrosis,
346 • Defective prohormone processing, 347 • Galactosemia,
348 • Hemochromatosis, 348 • Leptin deficiency and hypogonadism,
349 • Lipodystrophy, 350 • Polycystic ovary disease (Stein Leventhal
syndrome), 351 • Polyglandular autoimmune syndromes and hypogonadism,
351 • Wilson disease, 352
Teratogenic Causes of Sexual Maldevelopment, 353
18. Autosomal Aneusomy and Sexual Maldevelopment, 355
Clinical biology of autosomal aneusomy, 355
Complete Autosomal Trisomies, 356
Trisomy 7, 356 • Trisomy 8, 356 • Trisomy 9 (includes mosaic trisomy 9),
357 • Trisomy 13, 357 • Trisomy 14, 357 • Trisomy 18, 358 • Trisomy
21,358 • Trisomy 22, 359
Partial Autosomal Trisomies (Segmental Duplications), 359
Dup2p, 359 • Dup3p, 359 • Dup 3q, 360 • Dup 4p, 360 • Dup 4q,
361 • Dup 6q, 361 • Dup 7p, 361 • Dup 9p (includes both trisomy and
tetrasomy 9p), 362 • Dup lOq, 362 • Tetrasomy 12p (isochromosome 12p,
Pallister Killian syndrome), 362 • Dup 15q, 363 • Dup 16q, 363 • Dup
17p, 363 • Dup 17q, 364 • Dup 22p (includes trisomy and tetrasomy 22p, cat
eye syndrome), 364
Autosomal Monosomy, 364
Del Ip36, 365 • Del Iq42, 365 • Del 2q, 366 • Del 4p (includes Wolf
Hirschhorn Syndrome and others), 366 • Del 7p, 367 • Del 7q (includes
Williams Beuren syndrome and others), 367 • Del 8p, 368 • Del 8q (includes
branchio oto renal, trichorhinophalangeal syndromes and others), 368 • Del 9p,
368 • DellOp, 369 • Del lOq, 369 • Del lip (includes WAGR syndrome),
370 • Del llq (Jacobsen syndrome), 370 • Del 13q, 370 • Del 15q
(includes Prader Willi syndrome and others), 371 • Del 18p, 372 • Del 18q,
Contents xvii
373 • Del 21q (includes monosomy 21), 373 • Del 22q (DiGeorge syndrome
and others), 373 • Polyploidy, 374
V Genetic Forms of Gamete Failure
19. Genetic Disorders of Gamete Delivery, 377
Kartagener syndrome with dysfunctional sperm, 378 • Obstructive azoospermia
and mutations in the cystic fibrosis transmembrane conductance regulator, 380
20. Autosomal Genomic and Chromosomal Disorders with Meiotic
Abnormalities Causing Impaired Gametogenesis, 383
Autosomol imbalance and infertility, 383 • Autosomal chromosome
abnormalities with male infertility, 384 • Autosomal chromosome abnormalities
associated with ovarian dysgenesis, 385
21. Mouse Models of Infertility, 386
Mutations with effects on male fertility, 386 • Knockouts with effects on male
fertility, 388 • Mutations affecting female fertility, 388
Appendix: Selected Features of Various Genetic and Other Disorders of
Human Sexual Development and the Chapters in Which They Are
Discussed, 393
Index, 399
|
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| author | Pinsky, Leonard Erickson, Robert P. Schimke, Robert N. |
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| id | DE-604.BV012688169 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:31:57Z |
| institution | BVB |
| isbn | 0195109074 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-008624457 |
| oclc_num | 39811621 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | 410 S. Ill. |
| publishDate | 1999 |
| publishDateSearch | 1999 |
| publishDateSort | 1999 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Pinsky, Leonard Verfasser aut Genetic disorders of human sexual development Leonard Pinsky ; Robert P. Erickson ; R. Neil Schimke New York [u.a.] Oxford Univ. Press 1999 410 S. Ill. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 38 Developmental disabilities Genetic aspects Generative organs Abnormalities Genetic aspects Gonadal Disorders genetics Molecular Biology Sex Chromosome Disorders genetics Sex Chromosomes genetics Sex chromosome abnormalities Sex differentiation disorders Genetic aspects Sexual Maturation genetics Sexual disorders Genetic aspects Sexuelle Entwicklung (DE-588)4121668-4 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Sexuelle Entwicklung (DE-588)4121668-4 s Erbkrankheit (DE-588)4015106-2 s DE-604 Erickson, Robert P. Verfasser aut Schimke, Robert N. Verfasser aut Oxford monographs on medical genetics 38 (DE-604)BV000008339 38 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008624457&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Pinsky, Leonard Erickson, Robert P. Schimke, Robert N. Genetic disorders of human sexual development Oxford monographs on medical genetics Developmental disabilities Genetic aspects Generative organs Abnormalities Genetic aspects Gonadal Disorders genetics Molecular Biology Sex Chromosome Disorders genetics Sex Chromosomes genetics Sex chromosome abnormalities Sex differentiation disorders Genetic aspects Sexual Maturation genetics Sexual disorders Genetic aspects Sexuelle Entwicklung (DE-588)4121668-4 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4121668-4 (DE-588)4015106-2 |
| title | Genetic disorders of human sexual development |
| title_auth | Genetic disorders of human sexual development |
| title_exact_search | Genetic disorders of human sexual development |
| title_full | Genetic disorders of human sexual development Leonard Pinsky ; Robert P. Erickson ; R. Neil Schimke |
| title_fullStr | Genetic disorders of human sexual development Leonard Pinsky ; Robert P. Erickson ; R. Neil Schimke |
| title_full_unstemmed | Genetic disorders of human sexual development Leonard Pinsky ; Robert P. Erickson ; R. Neil Schimke |
| title_short | Genetic disorders of human sexual development |
| title_sort | genetic disorders of human sexual development |
| topic | Developmental disabilities Genetic aspects Generative organs Abnormalities Genetic aspects Gonadal Disorders genetics Molecular Biology Sex Chromosome Disorders genetics Sex Chromosomes genetics Sex chromosome abnormalities Sex differentiation disorders Genetic aspects Sexual Maturation genetics Sexual disorders Genetic aspects Sexuelle Entwicklung (DE-588)4121668-4 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Developmental disabilities Genetic aspects Generative organs Abnormalities Genetic aspects Gonadal Disorders genetics Molecular Biology Sex Chromosome Disorders genetics Sex Chromosomes genetics Sex chromosome abnormalities Sex differentiation disorders Genetic aspects Sexual Maturation genetics Sexual disorders Genetic aspects Sexuelle Entwicklung Erbkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008624457&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000008339 |
| work_keys_str_mv | AT pinskyleonard geneticdisordersofhumansexualdevelopment AT ericksonrobertp geneticdisordersofhumansexualdevelopment AT schimkerobertn geneticdisordersofhumansexualdevelopment |