A novel compound heterozygous variant of MYO7A in Usher syndrome type 1-Reference-Cited by-同舟云学术

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A novel compound heterozygous variant of MYO7A in Usher syndrome type 1

Published:2024-10 Issue: Volume:247 Page:110047
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Cao Wenchao,Kuang Longhao,Gan Run,Huang Tao,Yan Xiaohe

Funder

National Natural Science Foundation of China

Shenzhen Science and Technology Innovation Committee

Basic and Applied Basic Research Foundation of Guangdong Province

Guangdong Provincial Natural Science Foundation

Publisher

Elsevier BV

Reference40 articles.

1. Audiological findings in 100 USH2 patients;Abadie;Clin. Genet.,2012

2. Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4;Abad-Morales;Am J Ophthalmol Case Rep,2020

3. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses;Adato;Eur. J. Hum. Genet.,2002

4. Usher proteins in inner ear structure and function;Ahmed;Physiol. Genom.,2013

5. The genetic bases for syndromic and nonsyndromic deafness among Jews;Ben-Yosef;Trends Mol. Med.,2003

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