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Pathology Genetics d4890eeb

Waardenburg syndrome is due to mutation of

A
PAX2 gene
B
PAX3 gene
C
PAX6 gene
D
PAX9 gene
High-Yield Explanation
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.

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