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Article

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

American journal of medical genetics. Part A - 1 Sept 2022

Takeda Ryojun, Yamaguchi Tomomi, Hayashi Shujiro, Sano Shinichirou, Kawame Hiroshi, Kanki Sachiko, Taketani Takeshi, Yoshimura Hidekane, Nakamura Yukio, Kosho Tomoki

Abstract excerpt

Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35822426
DOI: 10.1002/ajmg.a.62887
PMCID: PMC9545637

Provenance

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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