Non-Syndromic 46,XY Disorders of Sex Development

Non-Syndromic 46,XY Disorders of Sex Development

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 diagnos...

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Main Authors: Gecz J, Breza J, Banovcin P
Format: Article
Language:English
Published: Sciendo 2018-06-01
Series:Acta Medica Martiniana
Subjects:
46
xy dsd
non-syndromic
gene
Online Access:https://doi.org/10.2478/acm-2018-0005
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spelling doaj-5056b44e37884c8b9e3aa22175f847ab2021-09-06T19:40:58ZengSciendoActa Medica Martiniana 1335-84212018-06-01181354110.2478/acm-2018-0005acm-2018-0005Non-Syndromic 46,XY Disorders of Sex DevelopmentGecz J0Breza J1Banovcin P2Clinic of Children and Adolescents, Jessenius Faculty of Medicine, Comenius University and University Hospital, Martin, SlovakiaClinic of Paediatric Urology, National Institute of Children’s Diseases, Bratislava, SlovakiaClinic of Children and Adolescents, Jessenius Faculty of Medicine, Comenius University and University Hospital, Martin, SlovakiaNon-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.https://doi.org/10.2478/acm-2018-000546xy dsdnon-syndromicgene
collection DOAJ
language English
format Article
sources DOAJ
author Gecz J
Breza J
Banovcin P
spellingShingle Gecz J
Breza J
Banovcin P
Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana
46
xy dsd
non-syndromic
gene
author_facet Gecz J
Breza J
Banovcin P
author_sort Gecz J
title Non-Syndromic 46,XY Disorders of Sex Development
title_short Non-Syndromic 46,XY Disorders of Sex Development
title_full Non-Syndromic 46,XY Disorders of Sex Development
title_fullStr Non-Syndromic 46,XY Disorders of Sex Development
title_full_unstemmed Non-Syndromic 46,XY Disorders of Sex Development
title_sort non-syndromic 46,xy disorders of sex development
publisher Sciendo
series Acta Medica Martiniana
issn 1335-8421
publishDate 2018-06-01
description 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.
topic 46
xy dsd
non-syndromic
gene
url https://doi.org/10.2478/acm-2018-0005
work_keys_str_mv AT geczj nonsyndromic46xydisordersofsexdevelopment
AT brezaj nonsyndromic46xydisordersofsexdevelopment
AT banovcinp nonsyndromic46xydisordersofsexdevelopment
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