Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype–phenotype review for DFNA11
Author:
Affiliation:
1. Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China;
2. Department of Otolaryngology, The 309th Hospital of Chinese People’s Liberation Army, Beijing, China
Funder
National Natural Science Foundation of China
Publisher
Informa UK Limited
Subject
Otorhinolaryngology,General Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/00016489.2017.1397743
Reference17 articles.
1. Defective myosin VIIA gene responsible for Usher syndrome type IB
2. Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
3. Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome
4. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
5. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
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1. Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature;World Journal of Clinical Cases;2023-09-06
2. Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS;Genes & Genomics;2023-01-11
3. Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss;Audiology and Neurotology;2023
4. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29
5. Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss;Journal of Clinical Laboratory Analysis;2022-09-26
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