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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Enregistré dans:
Détails bibliographiques
Publié dans:JAMA Dermatol
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2018
Sujets:
Brief Report
Accès en ligne: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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