Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort i...

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Bibliographic Details
Main Authors: Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D’Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Genes
Subjects:
neurofibromatosis type 1
congenital heart disease
pulmonary valve stenosis
non-truncating mutation
Noonan syndrome
Online Access:https://www.mdpi.com/2073-4425/10/9/675

Internet

https://www.mdpi.com/2073-4425/10/9/675

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