Article
[Phenotypic and genetic features in neurofibromatosis type 1 in children].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Sept 2015
Duat Rodríguez A, Martos Moreno G Á, Martín Santo-Domingo Y, Hernández Martín A, Espejo-Saavedra Roca J M, Ruiz-Falcó Rojas M L, Argente J
Abstract excerpt
INTRODUCTION: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013...
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