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Article

From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.

Biomolecules - 2 Feb 2023

Storoni Silvia, Verdonk Sara J E, Zhytnik Lidiia, Pals Gerard, Treurniet Sanne, Elting Mariet W, Sakkers Ralph J B, van den Aardweg Joost G, Eekhoff Elisabeth M W, Micha Dimitra

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the synthesis of type I collagen. Efforts to classify the high clinical variability in OI led to the Sillence classification. However, this classification only partially takes into account extraskeletal manifestations and the high genetic variability. Little is...

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PMID: 36830650
DOI: 10.3390/biom13020281
PMCID: PMC9953243

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