Dissecting the phenotypic variability of osteogenesis imperfecta

• Main Authors: Nadia Garibaldi (Author), Roberta Besio (Author), Raymond Dalgleish (Author), Simona Villani (Author), Aileen M. Barnes (Author), Joan C. Marini (Author), Antonella Forlino (Author)
• Format: Book
• Published: The Company of Biologists, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...