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Results 1 - 7 of 7 for Osteogenesis imperfecta type 10
  1. ... Genetic Testing Registry: Osteogenesis imperfecta Genetic Testing Registry: Osteogenesis imperfecta type 10 Genetic Testing Registry: Osteogenesis imperfecta type 12 Genetic ...
  2. ... PubMed BRUCK SYNDROME 1; BRKS1 FK506-BINDING PROTEIN 10; FKBP10 OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 NCBI Gene ClinVar Barnes AM, Cabral ... C, Marini JC. Absence of FKBP10 in recessive type XI osteogenesis imperfecta ... Nov;33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16. Citation ...
  3. ... Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Citation on PubMed ...
  4. ... Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Citation on PubMed ...
  5. ... syndrome 2 Osteogenesis imperfecta with unusual skeletal lesions Osteogenesis imperfecta, Levin type ... JQ, Norman E, Costello RF Jr, Beall DP. Gnathodiaphyseal dysplasia. Clin Imaging. 2007 Jan-Feb;31(1):67-9. doi: 10.1016/j.clinimag.2006.07.003. Citation on ...
  6. ... also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one ...
  7. ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ocular ... and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet. 2005 Nov;77(5):741-53. doi: 10.1086/497706. Epub 2005 Sep 27. Citation on ...