A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

por Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Publicado 2015

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

por Pires, Renato, Pires, Luís M, Vaz, Sara O, Maciel, Paula, Anjos, Rui, Moniz, Raquel, Branco, Claudia C, Cabral, Rita, Carreira, Isabel M, Mota-Vieira, Luisa
Publicado 2014