Michiel de Jong , Jolanda Schieving , Bozena Goraj
{"title":"Remarkable intra-cerebral lesions on MRI in a patient with Noonan syndrome","authors":"Michiel de Jong , Jolanda Schieving , Bozena Goraj","doi":"10.1016/j.ejrex.2011.01.005","DOIUrl":null,"url":null,"abstract":"<div><p><span>Noonan syndrome is an </span>autosomal dominant<span> condition with a wide variation in phenotypic expression. We report a case of a young man diagnosed with Noonan syndrome on the grounds of the classical PTPN-11 mutation, whose brain MRI performed for the evaluation of progressive gait-disorders showed remarkable intra-cerebral lesions.</span></p></div>","PeriodicalId":100506,"journal":{"name":"European Journal of Radiology Extra","volume":"78 1","pages":"Pages e17-e19"},"PeriodicalIF":0.0000,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ejrex.2011.01.005","citationCount":"7","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Radiology Extra","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S157146751100006X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 7
Abstract
Noonan syndrome is an autosomal dominant condition with a wide variation in phenotypic expression. We report a case of a young man diagnosed with Noonan syndrome on the grounds of the classical PTPN-11 mutation, whose brain MRI performed for the evaluation of progressive gait-disorders showed remarkable intra-cerebral lesions.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
