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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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Autores principales: Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Formato: Artigo
Lenguaje:Inglês
Publicado: Sociedade Brasileira de Genética 2014-01-01
Colección:Genetics and Molecular Biology
Materias:
microdeletion
microduplication
chromosome rearrangement
novel deletions
novel duplications
Acceso en línea:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=en
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