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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Detalles Bibliográficos
Publicado en:JAMA Dermatol
Autores principales: 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
Lenguaje:Inglês
Publicado: American Medical Association 2018
Materias:
Brief Report
Acceso en línea: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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