A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.

Abstract excerpt

Waardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. A novel missense, heterozygous variant (c.253A>C (p.Lys85Gln)) was detected in the paıred box 3 (PAX3) gene. For interpretation and classification of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Paired Box Transcription Factors