Article
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
Oncotarget - 29 Nov 2016
Banerjee Santasree, Chen Huishuang, Huang Hui, Wu Jing, Yang Zhiyun, Deng Weiping, Chen Dongna, Deng Jianlian, Su Yan, Li Yang, Wu Chao, Wang Ye, Zeng Hao, Wang Yiming, Li Xunhua
Abstract excerpt
Microcephaly (MCPH) is a developmental disorder characterized by reduced brain size and intellectual disability. A proportion of microcephaly is caused by defects in a single gene. Microcephaly 2 (MCPH2) is one of the most frequent subtypes of MCPH.WD repeat-containing protein 62 gene (WDR62) is the most frequently mutated gene in MCPH2 patients. Phenotypes involving dermatological changes in MCPH2 have not been...
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