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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

7 May 2021

Abstract excerpt

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinical signs are present in both diseases. Recently, after the observation that some individuals first ascertained by a...

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PMID: 34025714
DOI: 10.3389/fgene.2021.640558

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