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

Abstract 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 (...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2018-04-01
Sarja:	Italian Journal of Pediatrics
Aiheet:	NF1 gene Genotype-phenotype correlation New mutation NF1 microdeletion syndrome
Linkit:	http://link.springer.com/article/10.1186/s13052-018-0483-z
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