A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

BACKGROUND: Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown. METHODS: We performed targeted next-generation sequencing analysis and Sanger sequencing...

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Publicat a:BMC Med Genet
Autors principals: Wei, Chunli, Yang, Lisha, Cheng, Jingliang, Imani, Saber, Fu, Shangyi, Lv, Hongbin, Li, Yumei, Chen, Rui, Leung, Elaine Lai-Han, Fu, Junjiang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5996530/
https://ncbi.nlm.nih.gov/pubmed/29890953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0602-0
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