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Article

A novel MITF splice site mutation in a family with Waardenburg syndrome.

Journal of dermatological science - 1 Oct 2008

Monma Fumiko, Hozumi Yutaka, Kawaguchi Masakazu, Katagiri Yoshiyuki, Watanabe Tomoo, Yoshihiko Ito, Suzuki Tamio

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to MITF gene

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Source

Identifiers

PMID: 18595666
DOI: 10.1016/j.jdermsci.2008.05.003

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel MITF splice site mutation in a family with Waardenburg syndrome.PMID 18595666Read ↗

[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II].Semantic proximity Read ↗

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.Semantic proximity Read ↗

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.Semantic proximity Read ↗

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Semantic proximity Read ↗

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.Semantic proximity Read ↗

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.Semantic proximity Read ↗

Fraser syndrome due to homozygosity for a splice site mutation of FREM2.Semantic proximity Read ↗

A novel MITF variant in a white American Standardbred foal.Semantic proximity Read ↗

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.Semantic proximity Read ↗

Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.Semantic proximity Read ↗

[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].Semantic proximity Read ↗

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.Semantic proximity Read ↗

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