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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Detalles Bibliográficos
Autores principales: Garibaldi, Nadia, Besio, Roberta, Dalgleish, Raymond, Villani, Simona, Barnes, Aileen M., Marini, Joan C., Forlino, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Clinical Puzzle
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150118/
https://www.ncbi.nlm.nih.gov/pubmed/35575034
http://dx.doi.org/10.1242/dmm.049398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150118/
https://www.ncbi.nlm.nih.gov/pubmed/35575034
http://dx.doi.org/10.1242/dmm.049398

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