Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness

Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness

Background: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB). Methods: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were...

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Bibliographic Details
Main Authors: Dong'e Bai, Ruru Guo, Dandan Huang, Jian Ji, Wei Liu
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Congenital stationary night blindness
GRM6
Mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024030706

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