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- Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndromeLisa Golmard, Lauren M Vasta, Valérie Duflos, Carole Corsini, Catherine Dubois d'Enghien, Mary L McMaster, Laura A Harney, Ann G Carr, Alexander Ling, Frédérique Dijoud, Arnaud Gauthier, Markku Miettinen, Nicholas G Cost, Marion Gauthier-Villars, Daniel Orbach, Sabine Irtan, Stéphanie Haouy, Kris Ann Schultz, Dominique Stoppa-Lyonnet, Isabelle Coupier, Douglas R Stewart, Nicolas SirventJournal of Medical Genetics Mar 2021, jmedgenet-2020-107434; DOI: 10.1136/jmedgenet-2020-107434
- De novo mutations in CBL causing early-onset paediatric moyamoya angiopathyStéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle KossorotoffJournal of Medical Genetics Aug 2017, 54 (8) 550-557; DOI: 10.1136/jmedgenet-2016-104432
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