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

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 moder...

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Detalles Bibliográficos
Autores principales: Du, Qiang, Sun, Qin, Gu, Xiaodong, Wang, Jinchao, Li, Weitao, Guo, Luo, Li, Huawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204979/
https://www.ncbi.nlm.nih.gov/pubmed/35715776
http://dx.doi.org/10.1186/s12920-022-01289-7