Article
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Journal of medical genetics - 20 Mar 2025
Jeanne Médéric, Ronce Nathalie, Remizé Solène, Arpin Stéphanie, Baujat Geneviève, Breton Sylvain, Petit Florence, Vanlerberghe Clémence, Coeslier-Dieux Anne, Manouvrier-Hanu Sylvie, Vincent-Delorme Catherine, Khau Van Kien Philippe, Van-Gils Julien, Quélin Chloé, Pasquier Laurent, Odent Sylvie, Demurger Florence, Laffargue Fanny, Francannet Christine, Martin-Coignard Dominique, Afenjar Alexandra, Whalen Sandra, Verloes Alain, Capri Yline, Delahaye Andrée, Plaisancié Julie, Labrune Philippe, Destree Anne, Maystadt Isabelle, Ciorna Monferrato Viorca, Isidor Bertrand, Vincent Marie, Jean Marçais Nolwen, Nambot Sophie, Schaefer Elise, El Chehadeh Salima, Lespinasse James, Collignon Patrick, Busa Tiffany, Philip Nicole, Willems Marjolaine, Planes Marc, Vanakker Olivier M, Lambert Laetitia, Leheup Bruno, Mathieu-Dramard Michèle, Morin Gilles, Dieterich Klaus, Ginglinger Emmanuelle, Bayat Allan, Balasubramanian Meena, Dauriat Benjamin, Haye Damien, Amiel Jeanne, Rio Marlène, Cormier-Daire Valérie, Toutain Annick
Abstract excerpt
BACKGROUND: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the FGD1 gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the...
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