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致密性成骨不全症1例报告 被引量:3

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作者 杨增敏 吴莹
出处 《中医正骨》 2007年第8期15-15,共1页 The Journal of Traditional Chinese Orthopedics and Traumatology
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二级参考文献12

  • 1曹来宾,中华放射学杂志,1991年,25卷,25页
  • 2王云钊,骨放射诊断学,1989年
  • 3廉宗--,代谢性骨病X线诊断学,1985年
  • 4曹来宾,中华骨科杂志,1983年,3卷,253页
  • 5李景学,骨关节X线诊断学,1982年
  • 6曹来宾,骨与关节X线诊断学,1982年
  • 7曹来宾,青岛医学院学报,1961年,3卷,113页
  • 8Gelb B, Edelson J, Desnick R Linkage of pyenodysostosis to lq21by homozygozity mapping[J]. Nature Gener, 1995,10:235 - 237.
  • 9Polymeropoulos MH. The gene for pyenodysostosis maps to humanchromosome lcen - q21 [J]. Nat Genet, 1995,10:237 - 239.
  • 10Fujita Y, et al: Novel mutations of the cathepsin K gene in patients withpyenodysostosis and their characterization [ J ]. J Clin Endocrinol Metab, 2000,85:1,425.

共引文献5

同被引文献78

  • 1林贞鼎,游斌.致密性成骨不全x线诊断(附1例报告)[J].中国罕少见病杂志,1995,2(1):46-46. 被引量:2
  • 2Naeem M,Sheikh S,Ahmad W.A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.BMC Med Genet,2009,10:76.
  • 3Mujawar Q,Naganoor R,Patil H,et al.Pycnodysostosis with unusual findings:a case report.Cases.J,2009,2:6544.
  • 4Schilling AF,Mülhausen C,Lehmann W,et al.High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.Osteoporos Int,2007,18 (5):659-669.
  • 5Fleming KW,Barest G,Sakai O.Dental and facial bone abnormalities in pyknodysostosis:CT findings.AJNR Am J Neuroradiol,2007,28 (1):132-134.
  • 6Gelb BD,Moissoglu K,Zhang J,et al.Cathepsin K:isolation and characterization of the murine cDNA and genomic sequence,the homologue of the human pycnodysostosis gene.Biochem Mol Med,1996,59(2):200-206.
  • 7Polymeropoulos MH,Ortiz De Luna RI,Ide SE,et al.The gene for pycnodysostosis maps to human chromosome 1cen-q21.Nat Genet,1995,10 (2):238-239.
  • 8Gelb BD,Edelson JG,Desnick RJ.Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping.Nat Genet,1995,10(2):235-237.
  • 9Maroteaux P,Lamy M.Pyknodysostosis.Presse Med,1962,70:999-1002.
  • 10Ferguson J,Brown RH,Cheong LY.Pycnodysostosis associated with delayed and ectopic eruption of permanent teeth.Int J Paediatr Dent,1991,1 (1):35-41.

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