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

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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Dades bibliogràfiques
Autors principals: Silvia Storoni, Sara J. E. Verdonk, Lidiia Zhytnik, Gerard Pals, Sanne Treurniet, Mariet W. Elting, Ralph J. B. Sakkers, Joost G. van den Aardweg, Elisabeth M. W. Eekhoff, Dimitra Micha
Format: Article
Idioma:English
Publicat: MDPI AG 2023-02-01
Col·lecció:Biomolecules
Matèries:
osteogenesis imperfecta
collagen type I
genetics
pathogenic variants
phenotype-genotype correlation
classification
Accés en línia:https://www.mdpi.com/2218-273X/13/2/281

Internet

https://www.mdpi.com/2218-273X/13/2/281

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