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Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1691, doi. 10.1007/s00431-014-2314-6
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- Publication type:
- Article