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
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Charng WL et al.
Journal of Medical Genetics, 2024
38663984 (PubMed )
Supplement: jmg-2024-109846supp001.xlsx › Table_S3
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
COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction.
Dalewski B et al.
Genes, 2021
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