Identification of novel genetic causes of Rett syndrome-
                    <i>like</i>
                    phenotypes

Lopes, Fátima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela; de Sá, Joaquim; Isabel Dias, Ana; Oliveira, Guiomar; Cabral, Pedro; Temudo, Teresa; Calado, Eulália; Fineza Cruz, Isabel; Pedro Vieira, José; Oliveira, Renata; Esteves, Sofia; Sauer, Sascha; Jonasson, Inger; Syvänen, Ann-Christine; Gyllensten, Ulf; Pinto, Dalila; Maciel, Patrícia

doi:10.1136/jmedgenet-2015-103568

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Identification of novel genetic causes of Rett syndrome- like phenotypes

Shared by NobleBlocks on Jan 6, 2016 • 12:00 AM UTC

Authors:

Fátima Lopes

Mafalda Barbosa

Adam Ameur

Abstract

Background The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. Methods and results We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significan...

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