Associated Papers
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M et al.
Journal of Clinical Medicine, 2022
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.
Eurich B et al.
Children (basel, Switzerland), 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
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA et al.
Human Mutation, 2017
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