{"title":"X-linked thrombocytopenia (THC1/XLT)","authors":"Jyoti Kumar","doi":"10.4267/2042/70729","DOIUrl":null,"url":null,"abstract":"X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4267/2042/70729","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
