DeSanto-Shinawi Syndrome: First Case in South America

Por Vanegas, Sara, Ramirez-Montaño, Diana, Candelo, Estephania, Shinawi, Marwan, Pachajoa, Harry
Publicado no Mol Syndromol (2018)

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

Por Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia L, Ramírez-Montaño, Diana
Publicado no Appl Clin Genet (2018)

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

Por Vanegas, Sara, Sua, Luz Fernanda, López-Tenorio, Jaime, Ramírez-Montaño, Diana, Pachajoa, Harry
Publicado no Appl Clin Genet (2018)