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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha: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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