Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia

Pediatrics International

Volumn 38, Issue 4, 1996, Pages 405-411

  Foster, Jamie W ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Campomelic dysplasia; Sex reversal; SOX9; SRY

Indexed keywords

CHROMOSOME 17Q; CHROMOSOME ABERRATION; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; KARYOTYPE; MOLECULAR CLONING; PRIORITY JOURNAL; REVIEW; SEX DIFFERENTIATION DISORDER; SEX TRANSFORMATION; TESTIS; Y CHROMOSOME;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; HIGH MOBILITY GROUP PROTEINS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; OSTEOCHONDRODYSPLASIAS; SEX DIFFERENTIATION; SEX REVERSAL, GONADAL; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0029816992     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1996.tb03515.x     Document Type: Article

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