A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?

“22q11 deletion syndrome” (22q11DS) is a rare genetic syndrome, in which most patients share the same deletion, but their clinical features may vary a great deal. The genetic mechanisms underlying the variable expressivity and reduced penetrance of 22q11DS still have to be fully elucidated. Epilepsy...

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Detalles Bibliográficos
Autores principales: Bertini, Veronica, Valetto, Angelo, Azzarà, Alessia, Legitimo, Annalisa, Saggese, Giuseppe, Consolini, Rita, Orsini, Alessandro, Bonuccelli, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359231/
https://www.ncbi.nlm.nih.gov/pubmed/28377914
http://dx.doi.org/10.3389/fped.2017.00048

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