Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34025/fullpdf
Reference26 articles.
1. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta;Alanay;Am J Hum Genet,2010
2. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17;Bank;Proc Natl Acad Sci USA,1999
3. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N Engl J Med,2006
4. Prenatal diagnosis of Bruck syndrome;Berg;Prenat Diagn,2005
5. Osteogenesis imperfecta with joint contractures: Bruck syndrome;Blacksin;Pediatr Radiol,1998
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