Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report

BACKGROUND: Patients with a univentricular heart form a morphological heterogenous group of patients at the most severe end of the congenital heart disease (CHD) spectrum. Over the past decades, more awareness and knowledge has been raised on the genetic contributions to CHD. To date, only a limited...

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Detalles Bibliográficos
Autores principales: Nederend, Marieke, Stoger, J Lauran, Egorova, Anastasia D, Barge-Schaapveld, Daniela Q C M, Jongbloed, Monique R M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141453/
https://www.ncbi.nlm.nih.gov/pubmed/37123657
http://dx.doi.org/10.1093/ehjcr/ytad176

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