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

Internet

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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