Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequen...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Grandone, Anna, Onore, Maria Elena, Melone, Mariarosa Anna Beatrice, Straccia, Giulia, Melis, Daniela, Piccolo, Vincenzo, Limongelli, Giuseppe, Buono, Salvatore, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6722641/
https://ncbi.nlm.nih.gov/pubmed/31370276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10080580
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