COL4A2-Related Disorder Presenting in Adulthood With Rhabdomyolysis

The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestati...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-12, p.e63965
Hauptverfasser:	Olarewaju, Bukola A, Tejon, Judy, Shurrab, Shaymaa, Chen, Alicia, Shamoun, Fadi, Smith, Benn E, Osundiji, Mayowa A
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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