A missense GDF5 variant causes brachydactyly type A1 and multiple‐synostoses syndrome 2
Juyi Li,
Xiaofang Liang,
Xiufang Wang
et al.
Abstract:ObjectiveThis study aimed to identify the molecular defects and clinical manifestations in a Chinese family with brachydactyly (BD) type A1 (BDA1) and multiple‐synostoses syndrome 2 (SYNS2).MethodsA Chinese family with BDA1 and SYNS2 was enrolled in this study. Whole‐exome sequencing was used to analyze the gene variants in the proband. The sequences of the candidate pathogenic variant in GDF5 was validated via Sanger sequencing. I‐TASSER and PyMOL were used to analyze the functional domains of the correspondi… Show more
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