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81
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Osteogenesis imperfecta type 10
- ... Genetic Testing Registry: Osteogenesis imperfecta Genetic Testing Registry: Osteogenesis imperfecta type 10 Genetic Testing Registry: Osteogenesis imperfecta type 12 Genetic ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- Types of OI (Osteogenesis Imperfecta Foundation)Osteogenesis Imperfecta/Specifics ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation
- ... responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of ...
- Fast Facts on Osteogenesis Imperfecta (Osteogenesis Imperfecta Foundation) - PDFOsteogenesis Imperfecta/Start Here ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation ... PDF
- ... 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 ...
- Myths about OI (Osteogenesis Imperfecta) (Osteogenesis Imperfecta Foundation)Osteogenesis Imperfecta/Related Issues ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation