Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype

Molecular Human Reproduction

Volumn 17, Issue 6, 2011, Pages 372-378

  Paliwal, Preeti ^a   Sharma, Anshul ^a   Birla, Shweta ^a   Kriplani, Alka ^a   Khadgawat, Rajesh ^a   Sharma, Arundhati ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

DAX1 (NR0B1); DHH; Mutation; Pure gonadal dysgenesis; SF1 (NR5A1); Sry; Swyer syndrome

Indexed keywords

AMENORRHEA; ARTICLE; CLINICAL ARTICLE; DHH GENE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GONADAL DYSGENESIS; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XY; KARYOTYPING; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; SEX DETERMINATION; SEX TRANSFORMATION; SFI GENE; SRY GENE;

AMENORRHEA; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA-BINDING PROTEINS; FEMALE; GONADAL DYSGENESIS, 46,XY; HEDGEHOG PROTEINS; HETEROZYGOTE; HUMANS; INTRONS; KARYOTYPING; MUTATION, MISSENSE; PEDIGREE; SEX DETERMINATION PROCESSES; SEXUAL DEVELOPMENT; SIBLINGS; SOXB1 TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS;

ERINACEIDAE;

EID: 79957478254     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gar002     Document Type: Article

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