Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature

Author:

Talebi Farah,Mardasi Farideh GhanbariORCID,Asl Javad Mohammadi,Sayahi Masoomeh

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference39 articles.

1. Novel homozygous mutation in the MYO15A gene in autosomal recessive hearing loss;Talebi;Zahedan J. Res. Med. Sci.,2016

2. Newborn hearing screening—a silent revolution;Morton;N. Engl. J. Med.,2006

3. Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by next-generation sequencing;Talebi;Int. J. Pediatr. Otorhinolaryngology,2017

4. A simple salting out procedure for extracting DNA from human nucleated cells;Miller;Nucleic acids Res.,1988

5. Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families;Mehrjoo;J. Genet.,2015

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