PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
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A. Munnich | H. Prokisch | N. Boddaert | A. Rötig | S. Lyonnet | D. Rodriguez | P. de Lonlay | G. Lina-Granade | M. Rio | J. Bonnefont | I. Ceballos-Picot | N. Loundon | V. Couloigner | J. Lapierre | J. Kaplan | C. Besmond | S. Marlin | L. Jonard | J. Beltrand | M. Robert | S. Sanquer | S. Heide | C. Merlette | Marie-Thérèse Abi Wardé | O. Mercati | E. Rubinato | I. Ceballos‐Picot | Oriane Mercati