1 results match your criteria: "RCSI Hospital Group Cavan Ireland.[Affiliation]"
Clin Case Rep
September 2022
Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.
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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