Non-Syndromic 46,XY Disorders of Sex Development-Reference-Cited by-同舟云学术

Non-Syndromic 46,XY Disorders of Sex Development

Published:2018-06-01 Issue:1 Volume:18 Page:35-41
ISSN:1335-8421
Container-title:Acta Medica Martiniana
language:en
Short-container-title:

Author:

Gecz J¹²,Breza J³,Banovcin P¹

Affiliation:

1. Clinic of Children and Adolescents, Jessenius Faculty of Medicine , Comenius University and University Hospital , Martin , Slovakia

2. Department of Paediatric Emergency, National Institute of Children’s Diseases , Bratislava , Slovakia

3. Clinic of Paediatric Urology, National Institute of Children’s Diseases , Bratislava , Slovakia

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.

Publisher

Walter de Gruyter GmbH

Subject

General Biochemistry, Genetics and Molecular Biology,General Nursing

Link

https://www.sciendo.com/pdf/10.2478/acm-2018-0005

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