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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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
格式: 文件
语言:English
出版: MDPI AG 2023-02-01
丛编:Biomolecules
主题:
osteogenesis imperfecta
collagen type I
genetics
pathogenic variants
phenotype-genotype correlation
classification
在线阅读:https://www.mdpi.com/2218-273X/13/2/281

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

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