… Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes,
but in … There is absence of rhizomelia (as characterized in OI type VII) (12) or problems with …

… Patients who were diagnosed with OI types V, VI and VII according to our expanded
classification were not included in this evaluation [1]. Patients were eligible for pamidronate …

… further heterogeneity; these patients who do not fall into any one of the three type VII variants
A, B or C may temporarily be grouped as EDS VIID (see “Locus Heterogeneity,” below). …

… Finally, these and similar studies ofcells frompatients withtype II OI (10), the Marfan syndrome
(25), and Ehlers-Danlos type VII (26) suggest that there is only a single copy per haploid …

… in bone and skin tissue in non-lethal OI type VIII. Although the bones sampled from these
OI type VIII children resembled those of OI type VII, its distinctive features were bone matrix …

… As an undertaking of the LCRC, the ‘Longitudinal Study of Osteogenesis Imperfecta’ was
initiated … This study includes 544 subjects with OI types I–VII (except type II). The demographic …

… Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone
fragility and long bone deformities. Approximately 85% of OI cases are caused by dominant …

… Type VI is based on the lack of SERPINF1, leading to mineralization deficiencies. Type VII
is … Type VIII is caused by a LEPRE1 gene mutation, leading to a cruel growth deficiency. …

… Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility.
OI type V … CRTAP (MIM 605497) were found responsible for OI types VI and VII, respectively. …

… The present analysis does not include patients who fulfilled the Sillence criteria for OI
type IV, but who could be further classified as having OI type V, VI or VII on the basis of our …