Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing
Author:
Affiliation:
1. Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, School of Clinical Medicine Henan University Zhengzhou China
2. FindGene Clinical Laboratories Shanghai China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.952
Reference35 articles.
1. Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelicDUOX2mutations
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3. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
4. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
5. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
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