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Article

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023

Venable Elise, Knight Dacre R T, Thoreson Emily K, Baudhuin Linnea M

Abstract excerpt

Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). Here we describe a cohort of 34 individuals with likely pathogenic and pathogenic variants in COL1A1 and COL1A2, 15 of whom have potential OIEDS1 (n = 5) or OIEDS2 (n = 10). A predominant OI phenotype and COL1A1...

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PMID: 36896471
DOI: 10.1002/ajmg.c.32038

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