Associated Papers
COL12A1 gene mutation is associated with habitual patellar dislocation: a case report and literature review.
Feng Q et al.
European Journal of Medical Genetics, 2025
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
Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.
Naghipoor K et al.
Molecular Biology Reports, 2023
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