Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome

Circ Genom Precis Med. 2018 Dec;11(12):e002397. doi: 10.1161/CIRCGEN.118.002397.

¹ Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.M.A.V., M.v.d.B., S.K., I.M.B.H.v.d.L., M.A.v.S., M.W.W.).
² Department of Pathology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA (A.A.).
³ Department of Pediatric Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (I.M.E.F.-M., J.A.E.K.).
⁴ Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (S.C.Y.).
⁵ Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands (M.M.B.).
⁶ Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.H.v.d.T.).

No abstract available

Keywords: family; genetic testing; heart defects, congenital; hypoplastic left heart syndrome; mutation; myocardium; plakophilin.

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