Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing

BACKGROUND: Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics. WS1 and...

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Detalles Bibliográficos
Autores principales: Nasirshalal, Mahzad, Panahi, Mohammad, Javanshir, Nahid, Salmani, Hamzeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183924/
https://www.ncbi.nlm.nih.gov/pubmed/33942382
http://dx.doi.org/10.1002/jcla.23792

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