Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants
Author:
Funder
Science and Technology Commission of Shanghai Municipality
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference27 articles.
1. Newborn hearing screening — a silent revolution;Morton;N. Engl. J. Med.,2006
2. Hereditary hearing loss; about the known and the unknown;Kremer;Hear. Res.,2019
3. The promise of whole-exome sequencing in medical genetics;Rabbani;J. Hum. Genet.,2014
4. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss;Richard;Hum. Mutat.,2019
5. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss;Sloan-Heggen;Hum. Genet.,2016
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A NOVEL <i>LOXHD1</i> PATHOGENIC VARIANT IN GREECE: CASE STUDY OF A DNFB77 NONSYNDROMIC HEARING IMPAIRMENT;Journal of Hearing Science;2023-12-22
2. Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss;Frontiers in Genetics;2022-05-27
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