Article
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2020
Li Hongdou, Cheng Bingjuan, Hu Xuyun, Li Chao, Su Jiasun, Zhang Shanshan, Li Ling, Li Mengting, Yang Kai, He Sheng, Chen Shaoke, Wang Hongyan, Liu Geli, Shen Yiping
Abstract excerpt
Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, cardiovascular disease, and abnormal sexual development. Here we described the first two Chinese Myhre syndrome patients diagnosed by whole-exome sequencing. They both had de novo c.1498A > G (p.Ile500Val) variant in SMAD4...
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