Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication

Background The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island,...

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Detalhes bibliográficos
Autor principal: Pires, Renato (author)
Outros Autores: Pires, Luís M. (author), Vaz, Sara O. (author), Maciel, Paula (author), Anjos, Rui (author), Moniz, Raquel (author), Branco, Claudia C. (author), Cabral, Rita (author), Carreira, Isabel M. (author), Mota-Vieira, Luisa (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
Congenital heart disease
22q11.2 deletion
22q11.2 microduplication
22q11.2 triplication
Texto completo:http://hdl.handle.net/10316/27591
País:Portugal
Oai:oai:estudogeral.sib.uc.pt:10316/27591

Texto Completo

http://hdl.handle.net/10316/27591

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