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Article

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

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

Abstract excerpt

OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical...

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Source

Identifiers

PMID: 29287868
DOI: 10.1016/j.ijporl.2017.11.011

Genes

PAX3
GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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