Osteogenesis imperfecta (OI) is a rare inherited connective tissue dysplasia characterized
with skeletal fragility, recurrent fractures and bone deformity, predominantly caused by …

Context Osteogenesis imperfecta (OI) is a rare, heterogeneous, genetic disorder
characterized by bone fragility and recurrent fractures. Bisphosphonates (BPs) are the most …

Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by
defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes …

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis
imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its …

The effective implementation of whole-exome sequencing-and whole-genome sequencing-
based diagnostics in the management of children affected with genetic diseases and the …

Purpose To evaluate the genotypic and phenotypic relationship in a large cohort of OI
patients and to compare the differences between eastern and western OI cohorts. Methods A …

Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous
group of diseases characterized by increased bone fragility and deformities. Although most …

Pathogenic variations in the NTRK1 can cause congenital insensitivity to pain with
anhidrosis (CIPA), a rare autosomal recessive inherited neuropathy. The precise diagnosis …

Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a “brittle bone
disease.” Around 90% of patients with OI harbor loss‐of‐function or dominant negative …

Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome
dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a …