Article
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.
American journal of medical genetics. Part A - 1 Apr 2014
Fujita Atsushi, Ochi Nobuhiko, Fujimaki Hidehiko, Muramatsu Hideki, Takahashi Yoshiyuki, Natsume Jun, Kojima Seiji, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Matsumoto Naomichi, Miyake Noriko
Abstract excerpt
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant sclerosing bone dysplasia. Typically affected females show macrocephaly, characteristic facial appearance, cleft palate, mild learning difficulties, hearing loss, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis and scapulae. Typically affected males usually die at the fetal...
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