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Article

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

European journal of medical genetics - 1 Jun 2018

Bocángel Magnolia Astrid Pretell, Melo Uirá Souto, Alves Leandro Ucela, Pardono Eliete, Lourenço Naila Cristina Vilaça, Marcolino Humberto Vicente Cezar, Otto Paulo Alberto, Mingroni-Netto Regina Célia

Abstract excerpt

This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and...

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Source

Identifiers

PMID: 29407415
DOI: 10.1016/j.ejmg.2018.01.012

Genes

SOX10
MITF
PAX3
EDN3
EDNRB
SNAI2

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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Waardenburg syndrome: Novel mutations in a large Brazilian sample.PMID 29407415Read ↗

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

Identification of eight novel variants across<i>PAX3, SOX10, EDNRB</i>and<i>MITF</i>genes in Waardenburg syndrome with next-generation sequencingSemantic proximity Read ↗

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.Semantic proximity Read ↗

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.Semantic proximity Read ↗

Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.Semantic proximity Read ↗

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.Semantic proximity Read ↗

[Analysis of genetic variation in patients with Waardenburg syndrome type Ⅱ by next generation sequencing].Semantic proximity Read ↗

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Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Semantic proximity Read ↗

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation SequencingSemantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

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