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 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 2018