A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis

Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone‐and‐rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three...

Descripción completa

Detalles Bibliográficos
Autores principales: Fu, Jiewen, Ma, Lu, Cheng, Jingliang, Yang, Lisha, Wei, Chunli, Fu, Shangyi, Lv, Hongbin, Chen, Rui, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201214/
https://www.ncbi.nlm.nih.gov/pubmed/30160356
http://dx.doi.org/10.1111/jcmm.13841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201214/
https://www.ncbi.nlm.nih.gov/pubmed/30160356
http://dx.doi.org/10.1111/jcmm.13841

Ejemplares similares