SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
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DOI: 10.1016/j.ijporl.2017.03.016
Abstract: BACKGROUND Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or… read more here.
Keywords: waardenburg syndrome; distinctive phenotypic; directed genetic; sox10 ... See more keywords