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...

Descripción completa

Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
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

Internet

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

Ejemplares similares