Associated Papers
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.
McAdam A et al.
American Journal of Medical Genetics. Part A, 2025
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M et al.
Journal of Clinical Medicine, 2022
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Mis EK et al.
American Journal of Medical Genetics. Part A, 2020
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J et al.
American Journal of Human Genetics, 2016
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