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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

BACKGROUND: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). OBJECTIVE: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. METHODS: The stu...

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Detalles Bibliográficos
Autores principales: Grassi, Marcília S., Jacob, Cristina M. A., Kulikowski, Leslie D., Pastorino, Antonio C., Dutra, Roberta L., Miura, Nana, Jatene, Marcelo B., Pegler, Stephanie P., Kim, Chong A., Carneiro-Sampaio, Magda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Cardiologia 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262098/
https://www.ncbi.nlm.nih.gov/pubmed/25317860
http://dx.doi.org/10.5935/abc.20140145