Search Results - Open Polar - "osteogenesis imperfecta"

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Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.

by M Labuda, J Morissette, L M Ward, F Rauch, L Lalic, P J Roughley, F H Glorieux
Published 2002
“...We have identified a novel form of autosomal recessive osteogenesis imperfecta (OI) in a small...”

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Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease.

by L M Ward, F Rauch, R Travers, G Chabot, E M Azouz, L Lalic, P J Roughley, F H Glorieux
Published 2002
“...Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone fragility...”

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3

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

by Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrzej, Eyre, David R., Bale, Sherri J., Marini, Joan C.
Published in Human Mutation (2013)
“...Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI...”

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