A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

Abstract

Abstract This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

Keywords

• genetics
• neurology
• ophthalmology
• pediatrics and adolescent medicine