A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function [1]

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 189-192

  Brown, S ^a   Yu, C C ^a   Lanzano, P ^a   Heller, D ^a   Thomas, L ^a   Warburton, D ^a   Kitajewski, J ^a   Stadtmauer, L ^a  

^a Howard Hughes Medical Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TESTIS DETERMINING FACTOR;

ADULT; CASE REPORT; FEMALE; GENE MUTATION; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XY; LETTER; OVARY FUNCTION; PRIORITY JOURNAL; SEX TRANSFORMATION; STOP CODON; TESTIS DEVELOPMENT;

EID: 0031917404     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301684     Document Type: Letter

References (20)

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