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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Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2014
Fag:
Review Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983590/
https://ncbi.nlm.nih.gov/pubmed/24764755
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