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Article

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Dec 2016

Chen H S, Liao X B, Liu Y L, He C F, Zhang H, Jiang L, Feng Y, Mei L Y

Abstract excerpt

Objective:To investigate the clinical chacteration and molecular pathology of Waardenburg syndrome type 2 in seven families, and provide genetic diagnosis and hereditary counseling for family members. Method:Clinical data of seven families with WS2（14 patients）were collected. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of...

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Source

Identifiers

PMID: 29798271
DOI: 10.13201/j.issn.1001-1781.2016.24.011

Genes

MITF
EDNRB
SNAI2
SOX10

Variants

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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