Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb
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DOI: 10.1038/ejhg.2017.83
Abstract: Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present… read more here.
Keywords: post axial; axial polydactyly; iqce gene; gene ... See more keywords