This case reports a novel plurimalformed syndrome associated with a microdeletion in the CTNNA3 gene, a gene previously only linked to arrhythmogenic right ventricular dysplasia (ARVD13).
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CTNNA3 microdeletion may associate with fetal malformations; leaves open causal role and clinical utility pending larger studies.
We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.
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Carmine Spampanato (2016) studied this question.
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