A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Claudia SantoroTeresa GiuglianoPia BernardoFederica PalladinoAnnalaura TorellaFrancesca Del Vecchio BlancoMaria Elena OnoreMarco CarotenutoVincenzo NigroGiulio PilusoPublished in: BMC neurology (2020)
The case presented here highlights how concurrent genetic defects should be considered in NF1 patients when NF1 mutations cannot reasonably explain all the observed clinical features.
Keyphrases
- intellectual disability
- signaling pathway
- autism spectrum disorder
- lps induced
- end stage renal disease
- pi k akt
- nuclear factor
- oxidative stress
- ejection fraction
- newly diagnosed
- chronic kidney disease
- locally advanced
- prognostic factors
- inflammatory response
- toll like receptor
- cell proliferation
- copy number
- rectal cancer