Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.

ABSTRACT:

Background and aims

Neurofibromatosis-Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan syndrome (NS). Nevertheless, many inconsistencies reside in our understanding of this condition, mainly its clinical features and genetic background. Through this systematic review, we aim to shed light on the epidemiological features, the broad clinical spectrum, the underlying genetic defects and the associated comorbidities of NFNS.

Methods

Medline, Scopus and Google Scholar were searched for publications on the clinical and genetic features of patients with NFNS. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed and the study protoco

SUBMITTER: Trimeche O 

PROVIDER: S-EPMC11877060 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature