A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1625-1630

  Cameron, Fergus J ^a   Hageman, Robyn M ^a   Cooke Yarborough, Claire ^a   Kwok, Cheni ^b   Goodwin, Linda L ^c   Sillence, David O ^c   Sinclair, Andrew H ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE;

ALLELE; ARTICLE; CHROMOSOME 17; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; ENVIRONMENTAL FACTOR; FEMALE; FEMALE GENITAL SYSTEM; GENE ACTIVITY; GENE INSERTION SEQUENCE; GENE MAPPING; GENE MUTATION; GENE TRANSLOCATION; GERM LINE; HUMAN; HUMAN CELL; INHERITANCE; KARYOTYPE 46,XY; MALE; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SEX TRANSFORMATION; TRUE HERMAPHRODITISM;

EID: 0029840844     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1625     Document Type: Article

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