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Article

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Molecular medicine reports - 1 Jan 2018

Wang Li, Qin Litao, Li Tao, Liu Hongjian, Ma Lingcao, Li Wan, Wu Dong, Wang Hongdan, Guo Qiannan, Guo Liangjie, Liao Shixiu

Abstract excerpt

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total o...

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Source

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Identifiers

PMID: 29115496
DOI: 10.3892/mmr.2017.7874
PMCID: PMC5780116

Genes

MITF
PAX3
SRY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-29115496-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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