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
COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.
İpek R et al.
Molecular Syndromology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
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
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
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
Dominant collagen XII mutations cause a distal myopathy.
Mohassel P et al.
Annals of Clinical and Translational Neurology, 2019
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C et al.
Human Molecular Genetics, 2015
26362251 (PubMed )
Supplement: supp_ddv376_ddv376supp_tables.xlsx › Supp._Table_S3
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D et al.
Human Molecular Genetics, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Padmanabha H et al.
Neurology India, 0
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