Article

Novel Homozygous Mutation in PDZD7 Gene in a Family with Nonsyndromic Sensorineural Hearing Loss

2021-12-20

Abstract excerpt

Hearing loss is the most common sensory neural disorder in human, and according to WHO estimation, 5.5% (466 million) 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, a homozygous m...

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Literature Corpus work: 322b703f-2e19-54e4-8c2f-cebca58412c7
DOI: 10.21203/rs.3.rs-1126711/v1

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