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甲髌综合征二例

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出处 《临床放射学杂志》 CSCD 北大核心 2010年第10期1387-1388,共2页 Journal of Clinical Radiology
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参考文献10

  • 1hin PH, Eich G, Fistarol SK. Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. Dermatology,2006,213 : 153.
  • 2Lee BH,Cho TJ,Choi HJ,et al. Clinico-genetic study of nail-patella syndrome. J Korean Med Sci,2009,24 : 82.
  • 3刘永红,王世山.指甲-髌骨综合征(附一家三例报告)[J].中华放射学杂志,1995,29(8):563-564. 被引量:2
  • 4缪小芬,王鸿帼,陆健,孙春峰.指甲-髌骨综合征的临床及X线征象探讨(附一家族6例报告及文献复习)[J].实用放射学杂志,2006,22(4):424-426. 被引量:5
  • 5Niemeyer P, Edlich M, Hauschild O, et al. Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family. Orthopade,2006,35:197.
  • 6Adele LT, Cheryl AC, Susan M. et al. Skeletal Integrity in Patients with Nail Patella Syndrome. The Journal of Clinical Endocrinology & Metabolism,2005,4 : 1961.
  • 7Karabulut N, Ariyurek M, Erol C, et al. Imaging of "iliac horns" in nail-patella syndrome. J Comput Assist Tomogr, 1996,20:530.
  • 8Ioan DM, Maximilian C, Fryns JP. Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome. Genet Couns, 1992,3:25.
  • 9Loomer RL. Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review. Clin Orthop Relat Res, 1989,238 : 112.
  • 10Yarali HN,Erden GA,Karaarslan F,et al. Clavicular horn: another bony projection in nail-patella syndrome. Pediatr Radiol, 1995,25: 549.

二级参考文献15

  • 1董淑兰,中华医学遗传学杂志,1994年,2卷,133页
  • 2陈伏初,实用放射学杂志,1992年,8卷,156页
  • 3杜传书,医学遗传学,1992年
  • 4洪庆成,临床儿科综合征手册,1991年
  • 5曹来宾,骨与关节X线诊断学,1981年
  • 6陆载岳,中华医学杂志,1980年,60卷,114页
  • 7Goshen E,Schwartz A,Zilka LR,et al.Bilateral accessory iliac horns:pathognomonicFindings in nail-patella syndrome.Scintigraphic evidence on bone sc[J].Clin Nucl Med.2000,25(6):476-477.
  • 8Tuncbilek N,Karakas HM,Okyen OO.Imaging of nail-patella syndrome[J].Hong Kong Med J,2005,11(2):116-118.
  • 9Szczaluba K,Obersztyn E,Kozlowski K,et al.Clinical picture and molecular analysis in a familial case of nail-patella syndrome identification of a new mutation in LMX1B gene[J].Med Wieku Rozwoj,2005,9(2):195-203.
  • 10Sweeney E,Fryer A,Mountford R,et al.Nail patella syndrome:a review of the phenotype aided by developmental biology[J].J Med Genet,2003,40(2):153-162.

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