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BLEPHAROFYMOSIS, CLEFT PALATE AND CONGENITAL CARDIOPATHY ASSOCIATED WITH COGNITIVE DEFICIT, SYNDROME OF BLEPHAROFIMOSIS TYPE OHDOBLEFAROFIMOSIS, PALADAR HENDIDO Y CARDIOPATÍA CONGÉNITA ASOCIADA A DÉFICIT COGNITIVO, SÍNDROME DE BLEFAROFIMOSIS TIPO OHDO

Yépez Guédez, Rafael David (Universidad Centroccidental Lisandro Alvarado, 2018)

Síndrome de la blefarofimosis familiar: estudio de dos familias colombianas y dos casos esporádicosFamilial Blepharophimosis Syndrome : Study of Two Colombian Families and Two Sporadic Cases

Ramírez Castro, José Luis (Universidad de Antioquia, Facultad de MedicinaMedellín, Colombia, 2021)

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome

Mendez, Rodrigo; Delea, Marisol; Dain, Liliana; Rittler, Mónica (2019)

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome

Mendez, Rodrigo; Delea, Marisol; Dain, Liliana; Rittler, Mónica (2019)

Determinacion de la frecuencia del Alelo TWIST2 en el sindrome blefarofimosis-ptosis-epicanto inverso

Mucharraz Díaz, Mario Hector (2007)