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Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization
Author(s) -
Goji Katsumi,
Nishijima Eüi,
Tsugawa Chikara,
Nishio Hisahide,
Pokharel Rohit Kumar,
Matsuo Masafumi
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380110138
Subject(s) - pediatric endocrinology , missense mutation , medicine , dysplasia , pediatrics , gynecology , general surgery , biology , mutation , genetics , gene
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