Cargando…

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey

Detalles Bibliográficos
Autor principal: Vona, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133215/
https://www.ncbi.nlm.nih.gov/pubmed/36693951
http://dx.doi.org/10.1038/s41431-023-01285-0
_version_ 1785031521154891776
author Vona, Barbara
author_facet Vona, Barbara
author_sort Vona, Barbara
collection PubMed
description
format Online
Article
Text
id pubmed-10133215
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Springer International Publishing
record_format MEDLINE/PubMed
spelling pubmed-101332152023-04-28 An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey Vona, Barbara Eur J Hum Genet Comment Springer International Publishing 2023-01-24 2023-04 /pmc/articles/PMC10133215/ /pubmed/36693951 http://dx.doi.org/10.1038/s41431-023-01285-0 Text en © The Author(s) 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Comment
Vona, Barbara
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title_full An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title_fullStr An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title_full_unstemmed An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title_short An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
title_sort encounter with the mild side of lars2-associated perrault syndrome and its implications on the diagnostic odyssey
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133215/
https://www.ncbi.nlm.nih.gov/pubmed/36693951
http://dx.doi.org/10.1038/s41431-023-01285-0
work_keys_str_mv AT vonabarbara anencounterwiththemildsideoflars2associatedperraultsyndromeanditsimplicationsonthediagnosticodyssey
AT vonabarbara encounterwiththemildsideoflars2associatedperraultsyndromeanditsimplicationsonthediagnosticodyssey