Articles with "variant atp1a2" as a keyword



Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2

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Published in 2024 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6560

Abstract: We report a 32‐year‐old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM,… read more here.

Keywords: anomaly syndrome; variant atp1a2; multiple congenital; affected twin ... See more keywords