Riley McCarty

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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Feb 09, 2025 |

By Riley McCarty, Neurogenetic Disorders, Dimah Saade, Pinki Munot

| Wiley Online Library

Introduction Collagen XII (COLXII) is the largest member of the fibril-associated collagen with interrupted triple helix family. COLXII is a homotrimer assembled from three COLXII alpha chains encoded by COL12A1.

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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

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