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
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
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Jezela-Stanek A et al.
Clinical Genetics, 2019
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Zou Y et al.
Human Molecular Genetics, 2014
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