Your browser doesn't support javascript.
loading
Fontaine progeroid syndrome-A case report.
Lally, Sinéad; Walsh, Nicola; Kenny, Janna; Franklin, Orla; Cotter, Melanie; Richardson, Sarah; McEligott, Fiona; Finan, Alan.
Afiliación
  • Lally S; Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.
  • Walsh N; Department of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 Ireland.
  • Kenny J; Department of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 Ireland.
  • Franklin O; Department of Paediatric Cardiology, Children's Health Ireland at Crumlin Dublin 12 Ireland.
  • Cotter M; Department of Paediatric Cardiology Children's Health Ireland at Temple Street Dublin 1 Ireland.
  • Richardson S; Department of Haematology Children's Health Ireland at Crumlin Dublin 12 Ireland.
  • McEligott F; Department of Haematology Children's Health Ireland at Temple Street Dublin 1 Ireland.
  • Finan A; Department of Paediatrics Children's Health Ireland at Temple Street Dublin 1 Ireland.
Clin Case Rep ; 10(9): e6291, 2022 Sep.
Article en En | MEDLINE | ID: mdl-36093452
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.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido