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锁骨颅骨发育不良综合征1例

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摘要 锁骨颅骨发育不良综合觚(cleidocranial dysplasia,CCD)是一种罕见的先天性常染色体显性遗传性疾病,出生发病率约为1:1000000。笔者在临床上遇到1例,报道如下。
作者 冯峥 马林
出处 《北京口腔医学》 CAS 2012年第6期345-345,共1页 Beijing Journal of Stomatology
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参考文献6

  • 1轩东英,庄最新,谢宝仪,章锦才.颅骨锁骨发育不良综合征患者的RUNX2基因突变检测分析[J].实用口腔医学杂志,2009,25(4):544-547. 被引量:3
  • 2王莹,吴华,张晓霞,赵红珊,冯海兰.家族性锁骨颅骨发育不全的基因突变检测[J].中华口腔医学杂志,2005,40(6):459-462. 被引量:20
  • 3Suba Z, Balaton G, Gyulai-Garl S, et al. Cleidocranial dysplasia: Diagnostic criteria and combined treatment. J Craniofac Surg, 2005, 16(6) :1122-1126.
  • 4Shen Z, Zou CC, Yang RW, et al. Cleidocranial Dysplasia: Report of 3 Cases and Literature Review. C|in Pediatr (Phila) , 2009,48 ( 2 ) : 194-198.
  • 5Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J,2008,1 ( 1 ) :377.
  • 6Cooper SC, Flaitz CM, Johnston DA, et al. A Natural History of Cleidocranial Dysplasia. Am J Med Genet,2001,104( 1 ) :1-6.

二级参考文献25

  • 1Mundlos S,Otto F,Mundlos C,et al.Mutation involving the transcription factor CBFA1 gene cause cleidocranial dysplasia[J].Cell,1997,89(5):773-779.
  • 2Gelb BD,Cooper E,Shevell M,et al.Genetic mapping of the cleidocranial dysplasia(CCD) locus on chromosome band 6p21 to include a microdeletion[J].Am J Med Genet,1995,58(2):200-205.
  • 3Otto F,Kanegane H,Mundlos S.Mutations in the RUNX2 gene in patients with cleidocranial dysplasia[J].Hum Mutat,2002,19(3):209-216.
  • 4Kim HJ,Nam SH,Kim HJ,et al.Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype[J].J Cell Physiol,2006,207(1):114-122.
  • 5Xuan D,Li S,Zhang X,et al.Mutations in the RUNX2 Gene in Chinese Patients with Cleidocranial Dysplasia[J].Ann Clin Lab Sci,2008,38(1):15-24.
  • 6Quack I,Vonderstrass B,Stock M et al.Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia[J].Am J Hum Genet,1999,65(5):1268-1278.
  • 7Yoshida T,Kanegane H,Osato M et al.Functional analysis of RUNX mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations[J].Am J Hum Genet,2002,71(4):724-738.
  • 8Zhou G,Chen Y,Zhou L,et al.CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia[J].Hum Mol Genet,1999,8(12):2311-2316.
  • 9Cooper SC, Flaitz CM, Johnston DA, et al. A nature history of cleidocranial dysplasia. Am J Med C, enet, 2001,104 : 1-6.
  • 10Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics.J Med Genet, 1999,36:177-182.

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