A 17q24.3 duplication identified in a large Chinese family with brachydactyly ‐anonychia

ConclusionIn summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly ‐anonychia in this family, which support the prior report that brachydactyly‐anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs.

Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Mohan Liu, Xueguang Zhang, Hongqian Liu, Ying Shen Tags: CLINICAL REPORT Source Type: research