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Article

[Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Sept 2020

Chen B, Zhang S, Tian Y A, Liu H F, Liu D H, Xue X, Li R J, Hu X X, Guan J Y, Tang W X, Xu H E

Abstract excerpt

Objective: To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing. Methods: The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and...

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Source

Identifiers

PMID: 32911884
DOI: 10.3760/cma.j.cn115330-20191015-00629

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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