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Osteogenesis imperfecta type 14
- ... Registry: Osteogenesis imperfecta type 13 Genetic Testing Registry: Osteogenesis imperfecta type 14 Genetic Testing Registry: Osteogenesis imperfecta type 15 Genetic ...
- ... 1. This condition has features similar to both osteogenesis imperfecta type XI and Kuskokwim syndrome (described above): affected individuals ... hydroxylation, it is nearly absent in people with osteogenesis imperfecta type XI and Bruck syndrome 1. As a result, ...
- What Are the Symptoms of Osteogenesis Imperfecta (OI)?
(Eunice Kennedy Shriver National Institute of Child Health and Human Development)
All types of OI have some degree of bone fragility and fracturing, and many have some degree of bone deformity. - ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ocular form Genetic Testing Registry: Osteoporosis with pseudoglioma ... Joint Bone Spine. 2005 May;72(3):207-14. doi: 10.1016/j.jbspin.2004.10.008. ... Hasegawa T. Various types of LRP5 mutations in four patients with osteoporosis- ...
- ... Syndrome Association (UK) Nystagmus Network Organic Acidemia Association Osteogenesis Imperfecta Foundation Ovarian Cancer Research Alliance Pachyonychia Congenita Project ...