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Article

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

BMC medical genomics - 3 Nov 2022

Li Sijun, Qin Mengyao, Mao Shuang, Mei Lingyun, Cai Xinzhang, Feng Yong, He Chufeng, Song Jian

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five sporadic cases). Further genotype-phenotype relationships were also investigated. METHODS: All probands underwent...

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Identifiers

PMID: 36329483
DOI: 10.1186/s12920-022-01379-6
PMCID: PMC9632049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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