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BioWorld - Sunday, April 26, 2026
Breaking News: Best of BioWorld Science: Q1See today's BioWorld Science
Home » Investigators identify novel variants in the KIAA1109 gene related to Alkuraya-Kucinskas syndrome
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Biomarkers

Investigators identify novel variants in the KIAA1109 gene related to Alkuraya-Kucinskas syndrome

March 20, 2023
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
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