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Waardenburg综合征Ⅰ型一例

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出处 《中华眼科杂志》 CAS CSCD 北大核心 2004年第1期59-61,共3页 Chinese Journal of Ophthalmology
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参考文献8

  • 1OysuC,OysuA,AslanI ,etal.TemporalboneimagingfindingsinWaardenburg′ssyndrome[].IntJPediatrOtorhinolaryngol.2001
  • 2Waardenburg PJ.A new syndrome combining developmental anormalies of the eyelids eyebrows and nose root with pigmentary defects of the iris and head hair and with congential deafness[].The American Journal of Human Genetics.1951
  • 3Arias S.Genetic heterogeneity in the Waardenburg syndrome[].Birth Defects Original Article Series.1971
  • 4Asher JH Jr,Friedman TB.Mouse and hamster mutants as models for Waardenburg syndromes in humans[].Journal of Medical Genetics.1990
  • 5Reynolds JE,Meyer JM,Landa B,et al.Analysis of variability of clinical manifestations in Waardenburg syndrome[].American Journal of Medical Genetics.1995
  • 6da-Silva EO.Waardenburg I syndrome: a clicical and genetic study of two large Brazilian kindreds and literature review[].American Journal of Medical Genetics.1991
  • 7Carey ML,Friedman TB,Asher JH Jr,et al.Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7[].Journal of Medical Genetics.1998
  • 8Winship I,Gericke G,Beighton P.X-Linked inheritance of Ocular albinism with late-onset sensorineural deafness[].American Journal of Medical Genetics.1984

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