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Article

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

American journal of medical genetics. Part A - 1 Apr 2017

Symoens Sofie, Steyaert Wouter, Demuynck Lynn, De Paepe Anne, Diderich Karin E M, Malfait Fransiska, Coucke Paul J

Abstract excerpt

Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Biochemical collagen analysis of the patients' dermal...

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PMID: 28261977
DOI: 10.1002/ajmg.a.38135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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