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

• Váldodahkkit: Safoura Zardadi (Dahkki), Sima Rayat (Dahkki), Maryam Hassani Doabsari (Dahkki), Mohammad Keramatipour (Dahkki), Saeid Morovvati (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2021-09-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...