From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the synthesis of type I collagen. Efforts to classify the high clinical variability in OI led to the Sillence classification. However, this classifica...

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Detalles Bibliográficos
Autores principales: Storoni, Silvia, Verdonk, Sara J. E., Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W., Sakkers, Ralph J. B., van den Aardweg, Joost G., Eekhoff, Elisabeth M. W., Micha, Dimitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953243/
https://www.ncbi.nlm.nih.gov/pubmed/36830650
http://dx.doi.org/10.3390/biom13020281

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