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Article

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

American journal of medical genetics. Part A - 15 Mar 2007

Schwarzbraun Thomas, Ofner Lisa, Gillessen-Kaesbach Gabriele, Schaperdoth Barbara, Preisegger Karl-Heinz, Windpassinger Christian, Wagner Klaus, Petek Erwin, Kroisel Peter M

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Topics

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Share to Abnormalities, Multiple
Share to Chromosome Banding
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 3

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Share to Microphthalmia-Associated Transcription Factor

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Source

Identifiers

PMID: 17318840
DOI: 10.1002/ajmg.a.31627

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.PMID 17318840Read ↗

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A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.Semantic proximity Read ↗

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.Semantic proximity Read ↗

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

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