A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
Rasha El SherifYoshihiko SaitoRasha S HusseinYayoi IzuManuel KochSatoru NoguchiIchizo NishinoPublished in: Neuropathology and applied neurobiology (2024)
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