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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Detalles Bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:English
Publicado: MDPI AG 2023-02-01
Series:Biomolecules
Subjects:
osteogenesis imperfecta
collagen type I
genetics
pathogenic variants
phenotype-genotype correlation
classification
Acceso en liña:https://www.mdpi.com/2218-273X/13/2/281

Internet

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

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