Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
40593860 (PubMed )
Supplement: 41525_2025_505_MOESM3_ESM.xlsx › Table_of_phenotypes
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
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
Dominant collagen XII mutations cause a distal myopathy.
Mohassel P et al.
Annals of Clinical and Translational Neurology, 2019
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