{Reference Type}: Case Reports
{Title}: Fontaine progeroid syndrome-A case report.
{Author}: Lally S;Walsh N;Kenny J;Franklin O;Cotter M;Richardson S;McEligott F;Finan A;Lally S;Walsh N;Kenny J;Franklin O;Cotter M;Richardson S;McEligott F;Finan A;
{Journal}: Clin Case Rep
{Volume}: 10
{Issue}: 9
{Year}: Sep 2022
暂无{DOI}: 10.1002/ccr3.6291
{Abstract}: 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.