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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zardadi, Safoura, Rayat, Sima, Hassani Doabsari, Maryam, Keramatipour, Mohammad, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451132/
https://www.ncbi.nlm.nih.gov/pubmed/34544414
http://dx.doi.org/10.1186/s12920-021-01074-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451132/
https://www.ncbi.nlm.nih.gov/pubmed/34544414
http://dx.doi.org/10.1186/s12920-021-01074-y

Ejemplares similares