Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

Abstract Background Data on clinical manifestations of neurofibromatosis-Noonan syndrome (NF-NS) remain heterogeneous, with limited validated descriptions. Methods This study aims to better define the clinical and molecular features of NF-NS and compare them with existing literature. Secondary objec...

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Main Authors: Didier Bessis, Dominique Vidaud, Pierre Meyer, Laurence Pacot, de La Villeon G, Adeline Alice Bonnard, Yline Capri, Christine Coubes, Fanchon Herman, Didier Lacombe, Nicolas Molinari, Laura Poujade, Agathe Roubertie, Julien Van Gils, Alain Verloes, David Geneviève, Hélène Cavé, Marjolaine Willems
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neurofibromatosis type 1
Noonan syndrome
NF1
RASopathies
Cardiovascular malformation
Online Access:https://doi.org/10.1186/s13023-025-03706-3
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https://doi.org/10.1186/s13023-025-03706-3

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