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Article

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

Journal of medical genetics - 27 Jan 2025

Trimeche Omeyma, Sakka Rania, Hajji Ekram, Missaoui Abdelmouhaymen, Ben Amor Bilel, Bayar Ines, Abid Sana, Marmouch Hela, Sayedi Hanen, Khochtali Ines

Abstract excerpt

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...

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Identifiers

PMID: 39643432
DOI: 10.1136/jmg-2024-110253
PMCID: PMC11877060

Genes

NF1

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