First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification

J B Ferreira, L Pimentel, M P Keasey, R R Lemos, L M Santos, M F Oliveira, S Santos, Nina Jensen, K Teixeira, Lene Pedersen, C R Rocha, M R Dias da Silva, J R M Oliveira

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Biochemistry, Genetics and Molecular Biology