Varying Clinical Presentation of Williams Syndrome: A Case Series
作者: KarSivamaniSivakumar
作者单位: 1Centre for Genetic Studies and Research, Madras Medical Mission , Chennai 600 037 , Tamilnadu , India
2Institute of Cardiovascular Diseases, Madras Medical Mission , Chennai 600 037 , Tamilnadu , India
刊名: International Journal of Human Genetics, 2015, Vol.15 (2), pp.51-54
来源数据库: Taylor & Francis Journal
DOI: 10.1080/09723757.2015.11886252
原始语种摘要: Abstract(#br)Williams syndrome (OMIM 194050) is a rare multisystem genetic disorder with an incidence of 1/ 75000 which usually occurs sporadically caused by the deletion of 26 contiguous genes, including elastin (ELN) (OMIM 130160) on chromosome 7q11.23. The researchers present here three cases of Williams syndrome with cardiac anomalies and varying clinical presentation. In this paper the researchers suggest a defined protocol with more attention while evaluating cardiac anomalies in childhood period, especially when the patient has facial dysmorphism or developmental delay.
全文获取路径: Taylor & Francis  (合作)

  • Williams 威廉斯棉
  • presentation 提示
  • disorder 无序
  • elastin 弹性硬朊
  • dysmorphism 同质异晶
  • suggest 建议
  • attention 注意
  • including 包括(气导)包括……在内包括…在内
  • evaluating 评测
  • period