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