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Article

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

JAMA dermatology - 1 Mar 2018

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

Abstract excerpt

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 not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 29322178
DOI: 10.1001/jamadermatol.2017.5464
PMCID: PMC5885846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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