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

Internet

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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