NF1 microdeletion syndrome: case report of two new patients

NF1 microdeletion syndrome: case report of two new patients

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype...

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Bibliographic Details
Main Authors: Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Italian Journal of Pediatrics
Subjects:
NF1 gene
Atypical deletion
Genotype-phenotype correlation
Contiguous gene syndrome
MLPA
Online Access:http://link.springer.com/article/10.1186/s13052-019-0718-7

Internet

http://link.springer.com/article/10.1186/s13052-019-0718-7

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