Dissecting the phenotypic variability of osteogenesis imperfecta

• Auteurs principaux: Nadia Garibaldi (Auteur), Roberta Besio (Auteur), Raymond Dalgleish (Auteur), Simona Villani (Auteur), Aileen M. Barnes (Auteur), Joan C. Marini (Auteur), Antonella Forlino (Auteur)
• Format: Livre
• Publié: The Company of Biologists, 2022-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...