Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Médéric Jeanne,Nathalie Ronce,Solène Remizé,Stéphanie Arpin,Geneviève Baujat,Sylvain Breton,Florence Petit,Clémence Vanlerberghe,Anne Coeslier-Dieux,Sylvie Manouvrier-Hanu,Catherine Vincent-Delorme,Philippe Khau Van Kien,Julien Van-Gils,Chloé Quélin,Laurent Pasquier,Sylvie Odent,Florence Demurger,Fanny Laffargue,Christine Francannet,Dominique Martin-Coignard,Alexandra Afenjar,Sandra Whalen,Alain Verloes,Yline Capri,Andrée Delahaye,Julie Plaisancié,Philippe Labrune,Anne Destree,Isabelle Maystadt,Viorca Ciorna Monferrato,Bertrand Isidor,Marie Vincent,Nolwen Jean Marçais,Sophie Nambot,Elise Schaefer,Salima El Chehadeh,James Lespinasse,Patrick Collignon,Tiffany Busa,Nicole Philip,Marjolaine Willems,Marc Planes,Olivier M Vanakker,Laetitia Lambert,Bruno Leheup,Michèle Mathieu-Dramard,Gilles Morin,Klaus Dieterich,Emmanuelle Ginglinger,Allan Bayat,Meena Balasubramanian,Benjamin Dauriat,Damien Haye,Jeanne Amiel,Marlène Rio,Valérie Cormier-Daire,Annick Toutain

doi:10.1136/jmg-2022-108868

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Médéric Jeanne, Nathalie Ronce + Show 55 more

https://doi.org/10.1136/jmg-2022-108868

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Journal: Journal of Medical Genetics

Publication Date: Jan 11, 2025

#FGD1 Gene #Aarskog-Scott Syndrome #Review Of Photographs #Stature In Adulthood #Attention Hyperactivity Disorder #Recommendations For Care #Prenatal Onset #Multiple Congenital Anomalies #Specific Course #Pathogenic Variant

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BackgroundAarskog-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...

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations