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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2022-05-01
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Series: | Disease Models & Mechanisms |
Subjects: | |
Online Access: | http://dmm.biologists.org/content/15/5/dmm049398 |