Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly
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DOI: 10.1002/dvdy.89
Abstract: Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. read more here.
Keywords: exome sequencing; family; nonsyndromic polydactyly; sequencing reveals ... See more keywords