Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and retinitis pigmentosa (RP). Here we present a...

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Detalles Bibliográficos
Autores principales: Chen, Nelson, Lee, Hane, Kim, Angela H., Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670441/
https://www.ncbi.nlm.nih.gov/pubmed/36384460
http://dx.doi.org/10.1186/s12886-022-02659-6

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