Literature DB >> 30562116

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Judith M A Verhagen1, Myrthe van den Born1, Serife Kurul1, Angeliki Asimaki2, Ingrid M B H van de Laar1, Ingrid M E Frohn-Mulder3, Janneke A E Kammeraad3, Sing C Yap4, Margot M Bartelings5, Marjon A van Slegtenhorst1, Jan H von der Thüsen6, Marja W Wessels1.   

Abstract

Entities:  

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

Mesh：

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Year:  2018        PMID： 30562116     DOI： 10.1161/CIRCGEN.118.002397

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  3 in total

1.  Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.

Authors:  Anneline S J M Te Riele; Cynthia A James; Hugh Calkins; Adalena Tsatsopoulou
Journal:  Front Pediatr       Date:  2021-12-02       Impact factor: 3.418

2.  Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction.

Authors:  Emmi Helle; Jaana Pihkala; Riitta Turunen; Hanna Ruotsalainen; Sari Tuupanen; Juha Koskenvuo; Tiina Ojala
Journal:  Front Pediatr       Date:  2020-10-30       Impact factor: 3.418

3.  A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report.

Authors:  Poomiporn Katanyuwong; Arthaporn Khongkraparn; Duangrurdee Wattanasirichaigoon
Journal:  Front Pediatr       Date:  2022-01-04       Impact factor: 3.418
  3 in total

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