Article
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Birth defects research - 1 Jul 2024
Pannier Emmanuelle, Sekri Abel, Roux Nathalie, Vasiljevic Alexandre, El Khattabi Laïla, Chatron Nicolas, Grotto Sarah, Menzella Delphine, Grangé Gilles, Thébault Florent, Massardier Jérôme, Fourrage Cécile, Lohmann Laurence, Tsatsaris Vassilis, Putoux Audrey, Boutaud Lucile, Attié-Bitach Tania
Abstract excerpt
BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin-Chaudry-Moss syndrome and Fontaine-Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and...
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