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

Abstract 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 sho...

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Principais autores: Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-06-01
coleção:BMC Medical Genomics
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Acesso em linha:https://doi.org/10.1186/s12920-022-01289-7
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