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7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dim...

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Detalles Bibliográficos
Autores principales:	Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288449/ https://www.ncbi.nlm.nih.gov/pubmed/32397165 http://dx.doi.org/10.3390/genes11050525

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