Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations-MedSci.cn

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations

Zhao, TT; Genchev, GZ; Wu, SN; Yu, GJ; Lu, H; Feng, JC

Lu, H (corresponding author), Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Ctr Biomed Informat, Shanghai Engn Res Ctr Big Data Pediat Precis Med, Shanghai, Peoples R China.; Lu, H (corresponding author), Shanghai Jiao Tong Univ, Sch Life Sci & Biotechnol, Dept Bioinformat & Biostat, SJTU Yale Joint Ctr Biostat, Shanghai, Peoples R China.; Feng, JC (corresponding author), Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Rehabil, Shanghai, Peoples R China.

Abstract

Pitt-Hopkins syndrome is an underdiagnosed neurodevelopmental disorder which is characterized by specific facial features, early-onset developmental d......

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Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations

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