Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Detalles Bibliográficos
Autores principales: Horton, Ari E., Lunke, Sebastian, Sadedin, Simon, Fennell, Andrew P., Stark, Zornitza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Viewpoint
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133393/
https://www.ncbi.nlm.nih.gov/pubmed/36732660
http://dx.doi.org/10.1038/s41431-023-01293-0
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author Horton, Ari E.
Lunke, Sebastian
Sadedin, Simon
Fennell, Andrew P.
Stark, Zornitza
author_facet Horton, Ari E.
Lunke, Sebastian
Sadedin, Simon
Fennell, Andrew P.
Stark, Zornitza
author_sort Horton, Ari E.
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spelling pubmed-101333932023-04-28 Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? Horton, Ari E. Lunke, Sebastian Sadedin, Simon Fennell, Andrew P. Stark, Zornitza Eur J Hum Genet Viewpoint Springer International Publishing 2023-02-03 2023-04 /pmc/articles/PMC10133393/ /pubmed/36732660 http://dx.doi.org/10.1038/s41431-023-01293-0 Text en © The Author(s) 2023, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Viewpoint
Horton, Ari E.
Lunke, Sebastian
Sadedin, Simon
Fennell, Andrew P.
Stark, Zornitza
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title_full Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title_fullStr Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title_full_unstemmed Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title_short Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
title_sort elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
topic Viewpoint
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133393/
https://www.ncbi.nlm.nih.gov/pubmed/36732660
http://dx.doi.org/10.1038/s41431-023-01293-0
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