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

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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Bibliographic Details
Main Authors: Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Anna Grandone, Maria Elena Onore, Mariarosa Anna Beatrice Melone, Giulia Straccia, Daniela Melis, Vincenzo Piccolo, Giuseppe Limongelli, Salvatore Buono, Silverio Perrotta, Vincenzo Nigro, Giulio Piluso
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Genes
Subjects:
neurofibromatosis type 1
Legius syndrome
RASopathies
next generation sequencing
multiplex ligation-dependent probe amplification
RNA analysis
Online Access:https://www.mdpi.com/2073-4425/10/8/580

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