一个中国家庭中导致常染色体隐性听力损失的基因中的新型复合杂合变异。 - Suppr

Novel compound heterozygous variants in the gene causing autosomal recessive hearing loss in a Chinese family.

作者信息

Shi Xinyu, Liu Xiaozhou, Zhao Zhengdong, Zong Yanjun, Sun Yu

机构信息

Department of Otorhinolaryngology Union Hospital, Tongji Medical College Huazhong University of Science and Technology Wuhan Hubei China.

Institute of Otorhinolaryngology Union Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan Hubei China.

出版信息

Pediatr Investig. 2024 Oct 10;8(4):313-315. doi: 10.1002/ped4.12454. eCollection 2024 Dec.

DOI:10.1002/ped4.12454

PMID:39720278

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11664535/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1e5/11664535/70aa63121e8b/PED4-8-313-g001.jpg

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Novel compound heterozygous variants in the gene causing autosomal recessive hearing loss in a Chinese family.

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