Article
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
American journal of medical genetics. Part A - 1 Apr 2020
Wang Yirou, Li Niu, Su Zhe, Xu Yufei, Liu Shijian, Chen Yao, Li Xin, Shen Yiping, Hung Christina, Wang Jian, Wang Xiumin, Bodamer Olaf
Abstract excerpt
Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with a complex phenotype that includes cranio-facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac and renal anomalies. Heterozygous, de novo dominant mutations in either KMT2D or KDM6A underlie KS. Limited information is available about the phenotypic spectrum of KS in China. Fourteen Chinese...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.