PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
- Resource Type
- Article
- Authors
- Mercati, Oriane; Abi Warde, Marie-Thérèse; Lina-Granade, Geneviève; Rio, Marlène; Heide, Solveig; de Lonlay, Pascale; Ceballos-Picot, Irène; Robert, Matthieu P.; Couloigner, Vincent; Beltrand, Jacques; Boddaert, Nathalie; Rodriguez, Diana; Rubinato, Elisa; Lapierre, Jean-Michel; Merlette, Christophe; Sanquer, Sylvia; Rötig, Agnès; Prokisch, Holger; Lyonnet, Stanislas; Loundon, Natalie; Kaplan, Josseline; Bonnefont, Jean-Paul; Munnich, Arnold; Besmond, Claude; Jonard, Laurence; Marlin, Sandrine
- Source
- In European Journal of Medical Genetics November 2020 63(11)
- Subject
- Language
- ISSN
- 1769-7212