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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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Sociedade Brasileira de Genética 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983590/
https://ncbi.nlm.nih.gov/pubmed/24764755
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