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Article

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Clinical and translational science - 1 Sept 2020

Zhytnik Lidiia, Maasalu Katre, Reimand Tiia, Duy Binh Ho, Kõks Sulev, Märtson Aare

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a "brittle bone disease." Around 90% of patients with OI harbor loss-of-function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 and α2 chains. Collagen-related forms of the disorder are classified as Sillence OI types I-IV. OI phenotype expression ranges from mild to lethal. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32166892
DOI: 10.1111/cts.12783
PMCID: PMC7485955

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