PRPS1 Loss-of-function Variants, from Isolated Hearing Loss to Severe Congenital Encephalopathy: New Cases and Literature Review
Oriane Mercati,Marie-Therese Abi Warde,Genevieve Lina-Granade,Marlene Rio,Solveig Heide,Pascale de Lonlay,Irene Ceballos-Picot,Matthieu P. Robert,Vincent Couloigner,Jacques Beltrand,Nathalie Boddaert,Diana Rodriguez,Elisa Rubinato,Jean-Michel Lapierre, Christophe Merlette,Sylvia Sanquer,Agnes Rotig,Holger Prokisch,Stanislas Lyonnet,Natalie Loundon,Josseline Kaplan,Jean-Paul Bonnefont,Arnold Munnich,Claude Besmond,Laurence Jonard,Sandrine Marlin European Journal of Medical Genetics（2020）
关键词
PRPS1,Hearing loss,Deafness,Arts syndrome,Intellectual deficiency
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