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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| 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 |