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Article

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.

The Journal of dermatology - 1 May 2018

Hemmi Ami, Okamura Ken, Tazawa Ryushi, Abe Yuko, Hayashi Masahiro, Izumi Shuji, Tohyama Jun, Shimomura Yutaka, Hozumi Yutaka, Suzuki Tamio

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29168219
DOI: 10.1111/1346-8138.14151

Genes

SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.PMID 29168219Read ↗

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IVSemantic proximity Read ↗

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.Semantic proximity Read ↗

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

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.Semantic proximity Read ↗

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

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].Semantic proximity Read ↗

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Semantic proximity Read ↗

A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.Semantic proximity Read ↗

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseSemantic proximity Read ↗

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].Semantic proximity Read ↗

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.Semantic proximity Read ↗

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