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Article

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.

BMC medical genomics - 17 Jun 2022

Du Qiang, Sun Qin, Gu Xiaodong, Wang Jinchao, Li Weitao, Guo Luo, Li Huawei

Abstract excerpt

Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately severe hearing loss at all frequencies. Using target genome enrichment and high-throughput sequencing, the...

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Identifiers

PMID: 35715776
DOI: 10.1186/s12920-022-01289-7
PMCID: PMC9204979

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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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