Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

Usher syndrome includes a group of genetically and clinically heterogeneous autosomal recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher syndrome type I (USHI) is characterized by profound hearing impairment beginning at birth, vestibular dysfunction, and uni...

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Detalles Bibliográficos
Autores principales: Zhang, Lianmei, Cheng, Jingliang, Zhou, Qi, Khan, Md. Asaduzzaman, Fu, Jiewen, Duan, Chengxia, Sun, Suan, Lv, Hongbin, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204213/
https://www.ncbi.nlm.nih.gov/pubmed/32425987
http://dx.doi.org/10.3389/fgene.2020.00422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204213/
https://www.ncbi.nlm.nih.gov/pubmed/32425987
http://dx.doi.org/10.3389/fgene.2020.00422

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