Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

IMPORTANCE: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do...

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Detalhes bibliográficos
Publicado no:JAMA Dermatol
Main Authors: Castellanos, Elisabeth, Plana, Adrià, Carrato, Cristina, Carrió, Meritxell, Rosas, Inma, Amilibia, Emilio, Roca-Ribas, Francesc, Hostalot, Cristina, Castillo, Alicia, Ros, Andrea, Quer, Ariadna, Becerra, Juan Luis, Salvador, Hector, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard, Bielsa, Isabel
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2018
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5885846/
https://ncbi.nlm.nih.gov/pubmed/29322178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamadermatol.2017.5464
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