COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

doi:10.1111/cge.13683

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Article

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Clinical genetics - 1 Mar 2020

Morlino Silvia, Micale Lucia, Ritelli Marco, Rohrbach Marianne, Zoppi Nicoletta, Vandersteen Anthony, Mackay Sara, Agolini Emanuele, Cocciadiferro Dario, Sasaki Erina, Madeo Annalisa, Ferraris Alessandro, Reardon Willie, Di Rocco Maja, Novelli Antonio, Grammatico Paola, Malfait Fransiska, Mazza Tommaso, Hakim Alan, Giunta Cecilia, Colombi Marina, Castori Marco

Abstract excerpt

The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of both disorders, and causative variants in COL1A1/COL1A2; but this phenotype has not been included in the current classification. Here, we expand and re-define this...

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PMID: 31794058
DOI: 10.1111/cge.13683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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