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Dissecting the 22q13 Region to Explore the Genetic and Phenotypic Diversity of Patients with Phelan-McDermid Syndrome

Aline Vitrac,Claire S. Leblond,Thomas Rolland,Freddy Cliquet,Alexandre Mathieu,Anna Maruani,Richard Delorme,Michael Schoen,Andreas M. Grabrucker,Conny van Ravenswaaij-Arts,Katy Phelan,Anne -Claude Tabet,Thomas Bourgeron

EUROPEAN JOURNAL OF MEDICAL GENETICS（2023）

引用 11|浏览47
关键词
Phelan-McDermid syndrome,Neurodevelopmental disorders,Autism,Epilepsy,Brain development,SHANK3
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