1.
Clin Case Rep
; 8(7): 1287-1292, 2020 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32695376
RESUMEN
We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.