Associated Papers
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.
Merlini L et al.
International Journal of Molecular Sciences, 2025
Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.
Huang H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
El Sherif R et al.
Neuropathology and Applied Neurobiology, 2024
COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.
İpek R et al.
Molecular Syndromology, 2024
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome.
Furuhata-Yoshimura M et al.
American Journal of Medical Genetics. Part A, 2023
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu M et al.
Iscience, 2023
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Delbaere S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D et al.
Human Molecular Genetics, 2014
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Padmanabha H et al.
Neurology India, 0
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