Associated Papers
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.
An J et al.
Frontiers in Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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.
Talebi F et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Tlili A et al.
Plos One, 2017
Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.
Mehrjoo Z et al.
Journal of Genetics, 2015
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
Ramzan K et al.
European Journal of Medical Genetics, 0
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