PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Oriane Mercati, Marie‐Thérèse Abi Wardé, Geneviève Lina‐Granade, Marlène Rio, Solveig Heide, Pascale de Lonlay, Irène Ceballos-Picot, Matthieu P. Robert, Vincent Couloigner, Jacques Beltrand, Nathalie Boddaert, Diana Rodríguez‐Espinosa, Elisa Rubinato, Jean‐Michel Lapierre, Christophe Merlette, Sylvia Sanquer, Agnès Rötig, Holger Prokisch, Stanislas Lyonnet, Natalie Loundon, Josseline Kaplan, Jean‐Paul Bonnefont, Arnold Münnich, Claude Besmond, Laurence Jonard, Sandrine Marlin