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Article

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

Molecular medicine reports - 1 Jun 2014

Xia Xin-Yi, Li Wei-Wei, Li Na, Wu Qiu-Yue, Cui Ying-Xia, Li Xiao-Jun

Abstract excerpt

Osteogenesis imperfecta (OI), also known as brittle bone disease, characterized by multiplicative osteopsathyrosis, blue sclera, dentinogenesis imperfecta and mild audition, is a rare inherited connective tissue disease. There are seven types of OI, I to VII, among which type I-IV are relatively common and associated with type I collagen. Defects in type I collagen synthesis or structure are responsible for the...

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Identifiers

PMID: 24682174
DOI: 10.3892/mmr.2014.2084

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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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