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congenital disorders of glycosylation
- From gestalt to gene: early predictive dysmorphic features of PMM2-CDGAntonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, Jordi Muchart, César Arjona, Mar Borregan, Adi Algrabli, Raquel Montero, Rafael Artuch, Ramón Velázquez-Fragua, Alfons Macaya, Celia Pérez-Cerdá, Belén Pérez-Dueñas, Belén Pérez, Mercedes SerranoJournal of Medical Genetics Apr 2019, 56 (4) 236-245; DOI: 10.1136/jmedgenet-2018-105588
- Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De LonlayJournal of Medical Genetics Dec 2017, 54 (12) 843-851; DOI: 10.1136/jmedgenet-2017-104903
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