Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous varia...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Okano, Satomi, Makita, Yoshio, Katada, Akihiro, Harabuchi, Yasuaki, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Imoto, Issei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6348282/
https://ncbi.nlm.nih.gov/pubmed/30774966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0037-y
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