Identification of a novel CACNA1F mutation in a Chinese family with CORDX3

BACKGROUND: X‐linked cone‐rod dystrophy (CORDX) is one form of inherited retinal disorders (IRDs) characterized by progressive dysfunction of photoreceptor. Three types of CORDX were reported and CACNA1F gene defect can cause CORDX3. The aim of this study was to investigate the pathogenic variant in...

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Detalles Bibliográficos
Autores principales: Du, Meng, Li, Yang, Zheng, Panpan, Zhong, Liang, Zhao, Weili, Zhang, Yuxin, Gu, Haiyan, Li, Xue, Liu, Zanchao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651601/
https://www.ncbi.nlm.nih.gov/pubmed/36165086
http://dx.doi.org/10.1002/mgg3.2060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651601/
https://www.ncbi.nlm.nih.gov/pubmed/36165086
http://dx.doi.org/10.1002/mgg3.2060

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