Browsing by Subject Blefarofimosis
Showing results 1 to 1 of 1
| Issue Date | Title | Author(s) |
|---|---|---|
| 26-Mar-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 |