A novel CTNND1 genotype-phenotype association: total anomalous pulmonary venous connection in a fetus
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We present the first case of CTNND1 variant with a prenatal clinical phenotype of total anomalous pulmonary venous connection. The genetic analysis identified a heterozygous pathogenic variant NM_001085458.2: c.2098C>T (p.R700*) in the CTNND1 gene of the fetus... ...
