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European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.Pageof 2