Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb
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DOI: 10.1111/cge.13547
Abstract: Pre‐axial polydactyly (PPD) is characterized by well‐developed non‐functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral… read more here.
Keywords: exome sequencing; stkld1; revealed nonsense; axial polydactyly ... See more keywords