Article
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
Molecular genetics & genomic medicine - 1 Dec 2019
Liu Hong-Yan, Huang Jia, Xiao Hai, Zhang Ming-Jie, Shi Fei-Fei, Jiang Ying-Hai, Du Han, He Qingzhong, Wang Zheng-Yuan
Abstract excerpt
BACKGROUND: The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing the normal function of retina. It is a clinically and genetically heterogeneous disorder and can be inherited in an X-linked, autosomal dominant or autosomal recessive pattern. Several genetic alterations to the genes involved in visual signal transduction of photoreceptors and/or...
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