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

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 recessi...

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Detalles Bibliográficos
Autores principales: Liu, Hong‐Yan, Huang, Jia, Xiao, Hai, Zhang, Ming‐Jie, Shi, Fei‐Fei, Jiang, Ying‐Hai, Du, Han, He, Qingzhong, Wang, Zheng‐Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900388/
https://www.ncbi.nlm.nih.gov/pubmed/31677249
http://dx.doi.org/10.1002/mgg3.952

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