Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through mu...

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Autores principales: Danielle P Moreira, Karina Griesi-Oliveira, Ana L Bossolani-Martins, Naila C V Lourenço, Vanessa N O Takahashi, Kátia M da Rocha, Eloisa S Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O'Halloran, Tiago R Magalhães, Agnes C Fett-Conte, Maria Rita Passos-Bueno
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/d49f0148101a47f7a65531924806f78e
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https://doaj.org/article/d49f0148101a47f7a65531924806f78e

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