Article
Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.
Molecular medicine reports - 1 Dec 2019
Wu Fangrui, Dai Ying, Wang Juan, Cheng Min, Wang Yanqin, Li Xiujuan, Yuan Ping, Liao Shuang, Jiang Li, Chen Jin, Yan Lisi, Zhong Min
Abstract excerpt
To the best of our knowledge, the present study reported the case of the first Chinese patient with microcephaly‑capillary malformation (MIC‑CAP) syndrome caused by a novel compound heterozygous mutation in the STAMBP gene, which encodes STAM binding protein. The present study also provides a review of relevant previously published studies. A boy with MIC‑CAP syndrome with developmental delay, intractable...
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