Dissecting the phenotypic variability of osteogenesis imperfecta

• Päätekijät: Nadia Garibaldi (Tekijä), Roberta Besio (Tekijä), Raymond Dalgleish (Tekijä), Simona Villani (Tekijä), Aileen M. Barnes (Tekijä), Joan C. Marini (Tekijä), Antonella Forlino (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: The Company of Biologists, 2022-05-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...