Articles with "iqce variations" as a keyword



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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

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Published in 2019 at "Human Mutation"

DOI: 10.1002/humu.23924

Abstract: Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and high‐genetic heterogeneity. Among the many genes involved, either in isolated or syndromic forms, eight have been implicated in… read more here.

Keywords: phenotype; novel iqce; postaxial polydactyly; variations confirm ... See more keywords