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- Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variantsClément Desjardins, Frédéric Caux, Bertrand Degos, Djallel Benzohra, Astrid De Liège, Gérôme Bohelay, Michel Longy, Chloé Béreaux, Béatrice GarcinJournal of Medical Genetics Jan 2023, 60 (1) 91-98; DOI: 10.1136/jmedgenet-2021-107954
- O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian ErgerJournal of Medical Genetics Jul 2022, 59 (7) 697-705; DOI: 10.1136/jmedgenet-2020-107470
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