Article
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
American journal of medical genetics. Part A - 1 Mar 2021
So Po L, Luk Ho M, Yu Kris P T, Cheng Shirley S W, Hau Edgar W L, Ho Stephanie K L, Lam Stephen T S, Lo Ivan F M
Abstract excerpt
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 syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic...
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