{"title":"Non-Syndromic 46,XY Disorders of Sex Development","authors":"J. Gécz, J. Breza, P. Bánovčin","doi":"10.2478/acm-2018-0005","DOIUrl":null,"url":null,"abstract":"Abstract Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"18 1","pages":"35 - 41"},"PeriodicalIF":0.0000,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/acm-2018-0005","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Medica Martiniana","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/acm-2018-0005","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.
期刊介绍：
Acta Medica Martiniana is a medical scientific journal, first published in print form in December 2001. It is a continuation of the journal / almanac Folia Medica Martiniana (1971 - 1996). The journal‘s owner is the Jessenius Faculty of Medicine, Comenius University, Slovakia. Dissemination of research results and scientific knowledge from all areas of medicine and nursing. Stimulation, facilitation and supporting of publication activity for the young medical research and clinical generation. The contributions of young novice authors (PhD students and post-doctorials) are particularly welcome. Acta Medica Martiniana is an open-access journal, with a periodicity of publishing three times per year (Apr/Aug/Dec). It covers a wide range of basic medical disciplines, such as anatomy, histology, biochemistry, human physiology, pharmacology, etc., as well as all clinical areas incl. preventive medicine, public health and nursing. Interdisciplinary and multidisciplinary manuscripts, including papers from all areas of biomedical research, are welcome.
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