Campomelic dysplasia with XY sex reversal: Diverse phenotypes resulting from mutations in a single gene

Annals of the New York Academy of Sciences

Volumn 785, Issue , 1996, Pages 137-149

  Schafer, Alan J ^a   Foster, Jamie W ^a   Kwok, Cheni ^a   Weller, Pollya ^a   Guioli, Silvana ^a   Goodfellow, Peter N ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

BONE BOWING; BONE DYSPLASIA; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 17; CONFERENCE PAPER; COSMID; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GONAD DEVELOPMENT; HUMAN; INTRON; KARYOTYPE 46,XY; MALE; OPEN READING FRAME; PHENOTYPE; PROTEIN DOMAIN; RADIODIAGNOSIS; SEX TRANSFORMATION; SEXUAL DEVELOPMENT; STOP CODON;

EID: 0029743231     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1996.tb56252.x     Document Type: Conference Paper

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