Kristl G Claeys, Luc Breysem, Eric Legius, Hilde Brems, David Cassiman, Matthieu Moisse, Pieter Vermeersch, Elena Levtchenko, Jaak Jaeken
{"title":"A Patient with neonatal cholestasis.","authors":"Kristl G Claeys, Luc Breysem, Eric Legius, Hilde Brems, David Cassiman, Matthieu Moisse, Pieter Vermeersch, Elena Levtchenko, Jaak Jaeken","doi":"10.34763/jmotherandchild.20202404.d-20-00012","DOIUrl":null,"url":null,"abstract":"<p><p>The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a <i>DNM2</i> mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic <i>SLC7A2</i> variant.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"24 4","pages":"31-33"},"PeriodicalIF":0.0000,"publicationDate":"2021-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8330358/pdf/","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of mother and child","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic SLC7A2 variant.
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