Autor:	Sinead Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McElligott, Alan Finan
Rok vydání:	2021
DOI:	10.22541/au.163836794.49669766/v1
Popis:	Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::5ffb9b0399da6cf5801123b07cb7e59d https://doi.org/10.22541/au.163836794.49669766/v1 Zobrazit plný text záznamu