Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family

BACKGROUND: Cone dystrophy with supernormal rod response (CDSRR) is an autosomal recessive retinal disorder characterized by myopia, dyschromatopsia, nyctalopia, photophobia, and nystagmus. CDSRR is caused by mutations in KCNV2, the gene encoding for an electrically silent Kv subunit (Kvs) named Kv8...

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Detalles Bibliográficos
Autores principales: Liu, Man, Zhu, Yingchuan, Huang, Lian, Jiang, Wenhao, Wu, Na, Song, Yue, Lu, Yilu, Ma, Yongxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580074/
https://www.ncbi.nlm.nih.gov/pubmed/34535971
http://dx.doi.org/10.1002/mgg3.1795

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