XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1759-1764

  Moalem, Sharon ^a   Babul Hirji, Riyana ^a   Stavropolous, Dmitri J ^a,b   Wherrett, Diane ^a   Bägli, Darius J ^a   Thomas, Paul ^c   Chitayat, David ^a,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Disorders of sex development; SOX3; XX male sex reversal

Indexed keywords

TESTOSTERONE; TRANSCRIPTION FACTOR SOX3;

ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; DISEASE ASSOCIATION; DNA DETERMINATION; GAIN OF FUNCTION MUTATION; GENE; GENE DOSAGE; GENE FUNCTION; GENE PROBE; GENETIC ASSOCIATION; GENETIC GAIN; GENOMIC IN SITU HYBRIDIZATION; GONAD; HUMAN; HYPOSPADIAS; INFANT; MALE; MALE GENITAL SYSTEM DISEASE; PATHOGENESIS; PRIORITY JOURNAL; SEX DETERMINATION PROCESS; SEX DETERMINING REGION Y; SEX TRANSFORMATION; SOX3 GENE; TESTIS; XX MALE; Y CHROMOSOME;

46, XX DISORDERS OF SEX DEVELOPMENT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; GENE DUPLICATION; HUMANS; MALE; PHENOTYPE; SOXB1 TRANSCRIPTION FACTORS;

MUS; MUS MUSCULUS;

EID: 84862704270     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35390     Document Type: Article

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