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A patient with Phelan‐McDermid syndrome and dilation of the great vessels

We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great...

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Detalles Bibliográficos
Autores principales: Deibert, Emily, Crenshaw, Melissa, Miller, Michelle S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452459/
https://www.ncbi.nlm.nih.gov/pubmed/30997046
http://dx.doi.org/10.1002/ccr3.2003