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Article

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

International journal of pediatric otorhinolaryngology - 1 May 2015

Chen Kaitian, Zong Ling, Zhan Yuan, Wu Xuan, Liu Min, Jiang Hongyan

Abstract excerpt

OBJECTIVE: Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. METHODS: Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with...

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Source

Identifiers

PMID: 25817900
DOI: 10.1016/j.ijporl.2015.03.006

Genes

SOX10

Variants

Provenance

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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Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.PMID 25817900Read ↗

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