Prevalence, Type, and Molecular Spectrum of NF1 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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Veröffentlicht in:Genes (Basel)
Hauptverfasser: Pinna, Valentina, Daniele, Paola, Calcagni, Giulio, Mariniello, Lucio, Criscione, Roberta, Giardina, Chiara, Lepri, Francesca Romana, Hozhabri, Hossein, Alberico, Angela, Cavone, Stefania, Morella, Annunziata Tina, Mandile, Roberta, Annunziata, Francesca, Di Giosaffatte, Niccolò, D’Asdia, Maria Cecilia, Versacci, Paolo, Capolino, Rossella, Strisciuglio, Pietro, Giustini, Sandra, Melis, Daniela, Digilio, Maria Cristina, Tartaglia, Marco, Marino, Bruno, De Luca, Alessandro
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6770533/
https://ncbi.nlm.nih.gov/pubmed/31487937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10090675
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