Search Results - "Mahmoudi, Sana"

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction by Garret, Philippine, Ebstein, Frédéric, Delplancq, Geoffroy, Dozieres‐Puyravel, Blandine, Boughalem, Aïcha, Auvin, Stéphane, Duffourd, Yannis, Klafack, Sandro, Zieba, Barbara A., Mahmoudi, Sana, Singh, Karun K., Duplomb, Laurence, Thauvin‐Robinet, Christel, Costa, Jean‐Marc, Krüger, Elke, Trost, Detlef, Verloes, Alain, Faivre, Laurence, Vitobello, Antonio

“…Heterozygous microdeletions of chromosome 15q13.3 (MIM: 612001) show incomplete penetrance and are associated with a highly variable phenotype that may include…”
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Plummer‐Vinson Syndrome in Children by Butori, Mathilde, Mahmoudi, Sana, Dugelay‐Ecochard, Emmanuelle, Belarbi, Nadia, Bellaïche, Marc, Hugot, Jean‐Pierre, Viala, Jérôme

“…ABSTRACT Objectives: Plummer‐Vinson syndrome (PVS), also called Kelly‐Paterson syndrome, is a rare cause of dysphagia in children. This syndrome associates…”
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Plummer-Vinson Syndrome in Children: 3 Cases and Review of the Pediatric Literature by Butori, Mathilde, Mahmoudi, Sana, Dugelay, Emmanuelle, Belarbi, Nadia, Bellaïche, Marc, Hugot, Jean-Pierre, Viala, Jérôme

“…The Plummer-Vinson syndrome (PVS), also named Kelly-Paterson syndrome, is a rare cause of dysphagia in children. This syndrome associates single or multiple…”
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