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Abnormalities of sexual differentiation in campomelic dwarfs
Author(s) -
Pauli R. M.,
Pagon R. A.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00876.x
Subject(s) - sexual differentiation , disorders of sex development , sox9 , biology , genetics , gene , transcription factor
A case of campomelic dwarfism and abnormalities of the external genitalia in a male infant is reported and the sexual characteristics of all reported infants with this syndrome are reviewed.