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Human sex development: targeted technologies to improve diagnosis

Buonocore, F; Achermann, JC; (2016) Human sex development: targeted technologies to improve diagnosis. Genome Biology , 17 , Article 257. 10.1186/s13059-016-1128-4. Green open access

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Abstract

A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.

Type: Article
Title: Human sex development: targeted technologies to improve diagnosis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s13059-016-1128-4
Publisher version: https://doi.org/10.1186/s13059-016-1128-4
Language: English
Additional information: Copyright © The Author(s). 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Keywords: Disorders of sex development, DSD, Haloplex, Gonadal dysgenesis, Genetic testing, Sex determination
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1534429
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