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

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

Abstract 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...

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Bibliographic Details
Main Authors: Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Mohammad Keramatipour, Saeid Morovvati
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Medical Genomics
Subjects:
Waardenburg syndrome
MITF
Hearing loss
Online Access:https://doi.org/10.1186/s12920-021-01074-y

Internet

https://doi.org/10.1186/s12920-021-01074-y

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