17q11.2 Duplication (includes NF1): A Scoping Review Protocol
Abstract
This scoping review aims to systematically identify and synthesize published evidence to characterize the reported phenotypic spectrum associated with 17q11.2 microduplications involving the NF1 gene, and to assess whether these duplications constitute a recognizable clinical syndrome. The findings will support clinical interpretation and identify gaps in the existing literature to guide future research.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Neurofibromatosis and Schwannoma Cases
Genomics and Rare Diseases
Publication details
- Journal / source
- Open Science Framework
- Publication date
- 1 January 2026