Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.
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DOI: 10.1016/j.ijporl.2017.04.016
Abstract: Lacrimo-auriculo-dento-digital syndrome (LADD) is a multiple congenital anomaly and a genetically heterogeneous disorder. The aim of this study was to identify the pathogenic gene in an Iranian family with LADD syndrome and review the literature… read more here.
Keywords: gene iranian; family; fgfr3; gene ... See more keywords