17q11.2 Duplication (includes NF1): A Scoping Review Protocol

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Authors: Douglas R Stewart, Gisela Butera, Seyma Eroglu, Ilhan Birsenogul
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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