Management of endocrine disease: Osteogenesis imperfecta: An update on clinical features and therapies
R Marom, BM Rabenhorst… - European journal of …, 2020 - academic.oup.com
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone
fragility and skeletal deformities. While the majority of cases are associated with pathogenic …
fragility and skeletal deformities. While the majority of cases are associated with pathogenic …
The evolution of the nosology of osteogenesis imperfecta
M Chetty, IA Roomaney, P Beighton - Clinical Genetics, 2021 - Wiley Online Library
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
AP Holtz, LT Souza, EM Ribeiro, AX Acosta, R Lago… - Bone, 2023 - Elsevier
Introduction Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous
disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI …
disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI …
Osteogenesis imperfecta in 140 Turkish families: molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous
group of diseases characterized by increased bone fragility and deformities. Although most …
group of diseases characterized by increased bone fragility and deformities. Although most …
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
Y Higuchi, K Hasegawa, N Futagawa… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Osteogenesis imperfecta (OI) is a rare connective‐tissue disorder characterized
by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or …
by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or …
Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
MLM Moreira, IM Araújo, GA Molfetta… - … of Endocrinology and …, 2021 - SciELO Brasil
The occurrence of fractures in young individuals is frequently overlooked by physicians,
especially when associated with exercise or trauma. Nevertheless, multiple fractures should …
especially when associated with exercise or trauma. Nevertheless, multiple fractures should …
Diagnóstico y manejo de la Osteogénesis Imperfeta
JE Salinas Calle - 2023 - dspace.ucacue.edu.ec
Background: Within genetic diseases, osteogenesis imperfecta, also known as brittle bone
disease, is among those of the skeletal system with low frequency. It is a condition that …
disease, is among those of the skeletal system with low frequency. It is a condition that …