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

Abstract 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) n...

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Autores principales: Man Liu, Yingchuan Zhu, Lian Huang, Wenhao Jiang, Na Wu, Yue Song, Yilu Lu, Yongxin Ma
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/fd71fed7edfc4471980aa6289eac83ec
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