Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

F Santos-SimarroE VallespinA Del PozoK IbañezJ C SillaL FernandezJ NevadoH González-PecellínV E F MontañoR MartinL I Alba ValdiviaS García-MiñaúrP LapunzinaMaria Palomares-Bralo

Published in: Clinical genetics (2017)

Keyphrases

copy number
left ventricular
dna methylation
atrial fibrillation
genome wide