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pro vyhledávání: '"Ho M Luk"'
Autor:
Shirley S W Cheng, Stephen T.S. Lam, Edgar W L Hau, Stephanie Ho, Ivan F M Lo, Ho M Luk, Kris P T Yu, Po L So
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(3)
Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki sy
Autor:
Jasmine L.F. Fung, Christopher C.Y. Mak, Claudia Ching Yan Chung, Brian H.Y. Chung, Steven L. C. Pei, Jeffrey Fong Ting Chau, Kavitha Rethanavelu, Ho M Luk
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(2)
Alstrom syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alstrom Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated Chinese families were recruited. Our cohort consists of 9 females and 12 males, bet