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瓦登博格综合征Ⅱ型1例

Waardenburg syndrome types Ⅱ:a case report
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出处 《医学影像学杂志》 2009年第1期55-55,60,共2页 Journal of Medical Imaging
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  • 1杨淑芝,杨伟炎,袁慧军.Waardenburg综合征研究现状[J].临床耳鼻咽喉科杂志,2005,19(19):910-912. 被引量:9
  • 2[1]Tassabehji M,Newton VE,liu XZ.et al.The mutational spectrum in Waardenburg syndrome.Hum Mol Genet,1995,4(11):2131-2137.
  • 3[2]Hodgkinson CA,Moore KJ,Nakayama A,et al.Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein.Cell,1993,74:395-404.
  • 4[3]Steson et al(2003),The Human Gene Mutation Database Cardiff:(HGMD):2003 update.Http://archive.uwcm.ac.uk/uwcm/mg/search.
  • 5[4]Farrer LA,Grundfast KM,Amos J,et al.Waardenburgsyndrome (WS) type 1 is caused by defects at multiple loci,one of which is near ALPP on chromose 2:first report of the WS Consortium.Am Hum Genet,1992,50:902-913.
  • 6[5]Liu XZ,Newton VE,Read AP.Waardenburg syndrome type 2:phenotypic finding and diagnostic criteria.Am J Med Genet,1995,55:95-100.
  • 7[6]Tachubana M,Takeda K,Nobukuni Y,et al.Ectopic expression of MITF,a gene for Waardenburg syndrome type 2,convertsfibroblasts to cells with melanocyte characteristics.Nat Genet,1996,14:50-54.
  • 8[7]Nobukuni Y,Watanabe A,Takeda K,et al.Analyses of loss of function mutations of MITF suggest that hapoinsufficiency is a cause of Waardenburg syndrome type 2a.AM J Hum Genet,1996,59:76-83.
  • 9[8]Smith SD,Kelley PM,Kenyon JB,et al.Tietz syndrome(hypopigmentation /deafness) cause by mutation of MITF.J Med Genet,2000,37:446-448.
  • 10Waardenburg PJ.A new syndrome combining developmenal anomaliesof the eyelids,eyebrows and nose root with pigmentary defects of irisand head hair with congenital deafness[J].Am J Hum Genet,1951,3:195.

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