Identification of novel genetic causes of Rett syndrome-like phenotypes

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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Detalhes bibliográficos
Autor principal: Lopes, Fátima Daniela Teixeira (author)
Outros Autores: Barbosa, Mafalda Fernanda Cabral Santos (author), Soares, Gabriela (author), Sá, Joaquim de (author), Dias, Ana Isabel (author), Oliveira, Guiomar (author), Cabral, Pedro (author), Temudo, Teresa (author), Maciel, P. (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Rett syndrome
Epilepsy
Whole exome sequencing
Intellectual disability
Science & Technology
Texto completo:http://hdl.handle.net/1822/45131
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/45131

Texto Completo

http://hdl.handle.net/1822/45131

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