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New microdeletion and microduplication syndromes: A comprehensive review

Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In...

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Detalles Bibliográficos
Autores principales: Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983590/
https://www.ncbi.nlm.nih.gov/pubmed/24764755