Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …

Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering
from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality …

Classical osteogenesis imperfecta (OI) is a bone disease caused by type I collagen
mutations and characterized by bone fragility, frequent fractures in absence of trauma and …

(1) Background: Osteogenesis imperfecta (OI) is a rare skeletal dysplasia characterized as a
heterogeneous disorder group with well-defined phenotypic and genetic features that share …

Worldwide diffused diseases such as osteoarthritis, atherosclerosis or chronic kidney
disease are associated with a tissue calcification process which may involve unexpected …

Background Genetic skeletal dysplasia conditions (GSDs) account for 5% of all birth defects.
Until recently, targeted treatments were only available for select few conditions; however …

Gene therapy is gaining traction as an effective treatment for several deleterious disorders
by delivering genetic material using viral or non-viral vectors to correct mutated genes …

Rare bone disorders are a heterogeneous group of diseases, initially associated with
mutations in type I procollagen (PC) genes. Recent developments from dissection at the …

O Caso das Doenças Raras The Rare Diseases Issue Page 1 EDITORIAL EDITORIAL 82
Medicina Interna REVISTA DA SOCIEDADE PORTUGUESA DE MEDICINA INTERNA O …