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Results 1 - 4 of 4 for Osteogenesis imperfecta type 7
  1. Osteogenesis imperfecta 
    ... Registry: Osteogenesis imperfecta type 5 Genetic Testing Registry: Osteogenesis imperfecta type 7 Genetic Testing Registry: Osteogenesis imperfecta type 8 Genetic ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  2. COL1A2 gene 
    ... valvular problems. J Med Genet. 2006 Jul;43(7):e36. doi: 10.1136/jmg.2005.038224. ... Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  3. COL1A1 gene 
    ... Most of the mutations that are responsible for osteogenesis imperfecta type I, the mildest form of this disorder, reduce ... the bone fragility and other characteristic features of osteogenesis imperfecta type I.Several kinds of mutations in the COL1A1 ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  4. Osteoporosis-pseudoglioma syndrome 
    ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ocular form Genetic Testing Registry: Osteoporosis with pseudoglioma ... T, Nishimura G, Emi M, Hasegawa T. Various types of LRP5 mutations in four ... of a 7.2-kb microdeletion using oligonucleotide tiling microarray. Am ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics