Article

Identification Functional Analysis of A Novel Mutation of the PAX3 Gene in A Chinese Family Associated with Waardenburg Syndrome Type I Running title: Novel PAX3 Mutation in Waardenburg Syndrome Type I

2026-08-24

Abstract excerpt

<title>Abstract</title> Objective <italic>PAX3</italic> is a known genetic cause of Waardenburg syndrome (WS). This investigation examined an innovative <italic>PAX3</italic> mutation as the genetic cause of hearing loss (HL) in an 18-month-old boy and analyzed clinical phenotypes of his Chinese three-generation family with WS type 1 (WS1). Methods Clinical evaluation, pedigree analysis, and molecular e...

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Literature Corpus work: 4716c524-6188-53bd-b8ee-281c7ab5c02f
DOI: 10.21203/rs.3.rs-10631787/v1

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