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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Bibliographic Details
Main Authors: Javanshir, N. (Author), Nasirshalal, M. (Author), Panahi, M. (Author), Salmani, H. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2021
Subjects:
WES
Online Access:View Fulltext in Publisher