Ontology highlight
ABSTRACT:
SUBMITTER: Giugliano T
PROVIDER: S-EPMC6722641 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Giugliano Teresa T Santoro Claudia C Torella Annalaura A Del Vecchio Blanco Francesca F Grandone Anna A Onore Maria Elena ME Melone Mariarosa Anna Beatrice MAB Straccia Giulia G Melis Daniela D Piccolo Vincenzo V Limongelli Giuseppe G Buono Salvatore S Perrotta Silverio S Nigro Vincenzo V Piluso Giulio G
Genes 20190731 8
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 sequencing of target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification and RNA analysis. We clinically and genetically investigated 281 patients, almost all ...[more]