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Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hyp...

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Detalles Bibliográficos
Autores principales:	Corrêa, Thiago, Venâncio, Amanda Cristina, Galera, Marcial Francis, Riegel, Mariluce
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995492/ https://www.ncbi.nlm.nih.gov/pubmed/32082653 http://dx.doi.org/10.1155/2020/5957415

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