Searchable abstracts of presentations at key conferences in endocrinology
Previous issue | Volume 63 | ECE2019 | Next issue

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

Card image cap
18-21 May 2019, Lyon, France

Symposia

Rare bone disorders

ea0063s21.1 | Rare bone disorders | ECE2019

Animal models of bone fragility

Forlino Antonella

Osteogenesis imperfecta (OI), the most common among the rare hereditary skeletal dysplasias, is a juvenile form of osteoporosis ranging from mild to perinatal lethal forms. Classical OI is a dominant disease affecting the COL1A1 and COL1A2 genes encoding for the α chains of type I collagen, the most abundant protein of the bone extracellular matrix (ECM). In the last decade new causative genes associated to dominant, recessive and X-linked transmission o...