Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Por Catena, Sofía, Aracena, Mariana, Pizarro, Óscar, Espinoza, Karena, Lay-Son, Guillermo
Publicado no Mol Syndromol (2017)

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Por León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.
Publicado no Sci Rep (2017)

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Por Repetto, Gabriela M, Guzmán, M Luisa, Delgado, Iris, Loyola, Hugo, Palomares, Mirta, Lay-Son, Guillermo, Vial, Cecilia, Benavides, Felipe, Espinoza, Karena, Alvarez, Patricia
Publicado no BMJ Open (2014)