Associated Papers
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
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Bergant G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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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