谷歌Chrome浏览器插件
订阅小程序
在清言上使用

AB058. Prader-Willi syndrome: clinical and genetic features

Annals of Translational Medicine(2017)

引用 0|浏览3
暂无评分
摘要
Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that results from the lack of expression of paternal inherited imprinted genes on chromosome 15q11-13. PWS is characterized by severe infantile hypotonia; hypogonadism; obesity and hyperphagia; developmental delay, characteristic facial features, short stature; a distinctive behavioral phenotype. This study was performed to delineate the clinical and genetic features of patients diagnosed PWS at National Children’s Hospital, Hanoi, Vietnam.
更多
查看译文
关键词
syndrome,genetic features,prader-willi
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要