A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.

Kristin BoulierDeanna J ErwinSandesh NagamaniTanya N Eble

Published in: Clinical case reports (2018)

Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications.

Keyphrases

genome wide
copy number
human health
risk assessment
gene expression
dna methylation