Waardenburg syndrome is due to mutation of
Correct Answer: PAX3 gene
Description: Ans. (b) PAX3 gene(Ref: Robbins 9th/pg 140; 8th/pg 140)Waardenburg syndrome (WS):Autosomal dominant inherited conditionHypopigmentation of hair, skin, and/or iris of both eyes (partial albinism); and/or congenital deafness.4 types: Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome.
Category:
Pathology
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