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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1...

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Detalles Bibliográficos
Autores principales:	Corsello, Giovanni, Antona, Vincenzo, Serra, Gregorio, Zara, Federico, Giambrone, Clara, Lagalla, Luca, Piccione, Maria, Piro, Ettore
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885309/ https://www.ncbi.nlm.nih.gov/pubmed/29618358 http://dx.doi.org/10.1186/s13052-018-0483-z

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