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
Descripción
Sumario: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.

Ejemplares similares