A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex...

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Main Authors: J. R. M. Ceroni, R. L. Dutra, R. S. Honjo, J. C. Llerena, A. X. Acosta, P. F. V. Medeiros, M. F. Galera, É. A. Zanardo, F. B. Piazzon, A. T. Dias, G. M. Novo-Filho, M. M. Montenegro, F. A. R. Madia, D. R. Bertola, J. B. de Melo, L. D. Kulikowski, C. A. Kim
Format: article
Language:EN
Published: Nature Portfolio 2018
Subjects:
Medicine
R
Science
Q
Online Access:https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
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https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df

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