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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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Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Accesso online: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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