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Article

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

BMC medical genomics - 20 Sept 2021

Zardadi Safoura, Rayat Sima, Hassani Doabsari Maryam, Keramatipour Mohammad, Morovvati Saeid

Abstract excerpt

BACKGROUND: The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the MITF gene of WS2 patients are reported in a sizable Iranian family. METHODS: A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear),...

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Identifiers

PMID: 34544414
DOI: 10.1186/s12920-021-01074-y
PMCID: PMC8451132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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