Associated Papers
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Perrain V et al.
Neuromuscular Disorders : Nmd, 2025
Whole exome-based variant profiling and functional network characterization in neural tube defects.
Akcali N et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
Shravya MS et al.
Clinical Genetics, 2023
Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.
Desai D et al.
Frontiers in Physiology, 2020
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Ravenscroft G et al.
American Journal of Human Genetics, 2015
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