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Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy

Martin, Florence ; Kana, Veronika ; Mori, Andrea ; Fischer, Dirk ; Parkin, Nicolas ; Boltshauser, Eugen ; Rushing, Elisabeth ; Klein, Andrea

In: European Journal of Pediatrics, 2014, vol. 173, no. 12, p. 1691-1694