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...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: MDPI 2019
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items