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Article

Fontaine Progeroid Syndrome -- A Case Report

2021-12-01

Abstract excerpt

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.

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Identifiers and source

Literature Corpus work
56e08dd8-1aa8-5cb6-b1f9-a266bcd7999d
DOI
10.22541/au.163836794.49669766/v1
Open publication

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