Fontaine progeroid syndrome—A case report

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

Detalles Bibliográficos
Autores principales: Lally, Sinéad, Walsh, Nicola, Kenny, Janna, Franklin, Orla, Cotter, Melanie, Richardson, Sarah, McEligott, Fiona, Finan, Alan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448962/
https://www.ncbi.nlm.nih.gov/pubmed/36093452
http://dx.doi.org/10.1002/ccr3.6291
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author Lally, Sinéad
Walsh, Nicola
Kenny, Janna
Franklin, Orla
Cotter, Melanie
Richardson, Sarah
McEligott, Fiona
Finan, Alan
author_facet Lally, Sinéad
Walsh, Nicola
Kenny, Janna
Franklin, Orla
Cotter, Melanie
Richardson, Sarah
McEligott, Fiona
Finan, Alan
author_sort Lally, Sinéad
collection PubMed
description Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.
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spelling pubmed-94489622022-09-09 Fontaine progeroid syndrome—A case report Lally, Sinéad Walsh, Nicola Kenny, Janna Franklin, Orla Cotter, Melanie Richardson, Sarah McEligott, Fiona Finan, Alan Clin Case Rep Case Report Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months. John Wiley and Sons Inc. 2022-09-06 /pmc/articles/PMC9448962/ /pubmed/36093452 http://dx.doi.org/10.1002/ccr3.6291 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Lally, Sinéad
Walsh, Nicola
Kenny, Janna
Franklin, Orla
Cotter, Melanie
Richardson, Sarah
McEligott, Fiona
Finan, Alan
Fontaine progeroid syndrome—A case report
title Fontaine progeroid syndrome—A case report
title_full Fontaine progeroid syndrome—A case report
title_fullStr Fontaine progeroid syndrome—A case report
title_full_unstemmed Fontaine progeroid syndrome—A case report
title_short Fontaine progeroid syndrome—A case report
title_sort fontaine progeroid syndrome—a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448962/
https://www.ncbi.nlm.nih.gov/pubmed/36093452
http://dx.doi.org/10.1002/ccr3.6291
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AT richardsonsarah fontaineprogeroidsyndromeacasereport
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