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A novel NONO nonsense variant in a fetus with renal abnormalities

18 Dec 2023

Abstract excerpt

At 16 + 6-weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios. Trio exome sequencing analysis detected a novel pathogenic NONO variant. Postmortem examination after the termination of pregnancy confirmed the...

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PMID: 38110236
DOI: 10.1002/pd.6500

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