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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מידע ביבליוגרפי

Principais autores:	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
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	MDPI AG 2023-02-01
סדרה:	Biomolecules
נושאים:	osteogenesis imperfecta collagen type I genetics pathogenic variants phenotype-genotype correlation classification
גישה מקוונת:	https://www.mdpi.com/2218-273X/13/2/281
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!