Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Maryangel Perea-CabreraJavier T Granados-RiveronBegoña Segura-StanfordLiliana M Moreno-VargasDiego Prada-GraciaMari C Moran-EspinosaJulio ErdmengerHector Diaz-GarciaRocío Sánchez-UrbinaPublished in: Molecular genetics & genomic medicine (2023)
A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.