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Article

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Journal of human genetics - 1 May 2018

Wang Xue-Ping, Liu Ya-Lan, Mei Ling-Yun, He Chu-Feng, Niu Zhi-Jie, Sun Jie, Zhao Yu-Lin, Feng Yong, Zhang Hua

Abstract excerpt

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mechanism for WS2. However, the mechanisms explaining the genotypic and phenotypic variations in WS2 caused by MITF...

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Source

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Identifiers

PMID: 29531335
DOI: 10.1038/s10038-018-0425-z
PMCID: PMC5915419

Genes

MITF
TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.PMID 29531335Read ↗

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Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.Semantic proximity Read ↗

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Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.Semantic proximity Read ↗

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