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15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation
BACKGROUND: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Re...
Autores principales: | Ortiz-Prado, Esteban, Iturralde, Ana Lucía, Simbaña-Rivera, Katherine, Gómez-Barreno, Lenin, Hidalgo, Iván, Rubio-Neira, Mario, Espinosa, Nicolás, Izquierdo-Condoy, Juan, Arteaga-Espinosa, María Emilia, Lister, Alex, López-Cortés, Andrés, Cabrera-Andrade, Alejandro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110389/ https://www.ncbi.nlm.nih.gov/pubmed/34007283 http://dx.doi.org/10.1155/2021/6662054 |
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