SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: a clue for phenotype-directed genetic analysis
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
Shah–Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease
(HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This
study was aimed to determine the pathogenic variant in an Iranian pedigree affected with …
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
Shah–Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease
(HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This
study was aimed to determine the pathogenic variant in an Iranian pedigree affected with …
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