Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing

Abstract 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...

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Bibliographic Details
Main Authors: Hong‐Yan Liu, Jia Huang, Hai Xiao, Ming‐Jie Zhang, Fei‐Fei Shi, Ying‐Hai Jiang, Han Du, Qingzhong He, Zheng‐Yuan Wang
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital stationary night blindness
GRM6
next‐generation sequencing
pseudodominant inheritance
Online Access:https://doi.org/10.1002/mgg3.952

Internet

https://doi.org/10.1002/mgg3.952

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