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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Genes (Basel)
Main Authors: Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288449/
https://ncbi.nlm.nih.gov/pubmed/32397165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11050525
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