Dissecting the phenotypic variability of osteogenesis imperfecta

Dissecting the phenotypic variability of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2...

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Bibliographic Details
Main Authors: Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino
Format: Article
Language:English
Published: The Company of Biologists 2022-05-01
Series:Disease Models & Mechanisms
Subjects:
bone
osteogenesis imperfecta
phenotypic variability
Online Access:http://dmm.biologists.org/content/15/5/dmm049398

Internet

http://dmm.biologists.org/content/15/5/dmm049398

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