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
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
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