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Article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

The Journal of pediatrics - 1 Jun 2017

Heide Solveig, Keren Boris, Billette de Villemeur Thierry, Chantot-Bastaraud Sandra, Depienne Christel, Nava Caroline, Mignot Cyril, Jacquette Aurélia, Fonteneau Eric, Lejeune Elodie, Mach Corinne, Marey Isabelle, Whalen Sandra, Lacombe Didier, Naudion Sophie, Rooryck Caroline, Toutain Annick, Caignec Cédric Le, Haye Damien, Olivier-Faivre Laurence, Masurel-Paulet Alice, Thauvin-Robinet Christel, Lesne Fabien, Faudet Anne, Ville Dorothée, des Portes Vincent, Sanlaville Damien, Siffroi Jean-Pierre, Moutard Marie-Laure, Héron Delphine

Abstract excerpt

OBJECTIVE: To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosum abnormality/intellectual disability STUDY DESIGN: We screened 149 patients with corpus callosum abnormality/intellectual disability using Illumina SNP arrays. RESULTS: In 20 patients...

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Identifiers

PMID: 28284480
DOI: 10.1016/j.jpeds.2017.02.023

Genes

SHH
SOX2
TCF4
ZEB1

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