Article

Novel Compound Heterozygous MYO15A Splicing Variants in Autosomal Recessive Non-syndromic Hearing Loss

2023-10-03

Abstract excerpt

<h4>Background: </h4> Hereditary hearing loss is ahighly heterogeneous disorder both genetically and clinically. In this study, we aimed to identify the genetic cause of a Chinese family with autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL). <h4>Methods: </h4>: Clinical information and peripheral blood samples were collected from the proband and its parents. Two-stephigh-throughput next-genera...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ca13187a-1a1c-54c5-b31b-b27d57d7ea47
DOI: 10.21203/rs.3.rs-3294921/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel Compound Heterozygous MYO15A Splicing Variants in Autosomal Recessive Non-syndromic Hearing LossDOI 10.21203/rs.3.rs-3294921/v1Read

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.Semantic proximity Read

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.Semantic proximity Read

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.Semantic proximity Read

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.Semantic proximity Read

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.Semantic proximity Read

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.Semantic proximity Read

Association of a novel missense mutation in MYO15A with nonsyndromic hearing loss: a case reportSemantic proximity Read

[Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss].Semantic proximity Read

Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian PedigreesSemantic proximity Read

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.Semantic proximity Read