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Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome

Authors :
Ingrid M.B.H. van de Laar
Marjon van Slegtenhorst
Sing C. Yap
Ingrid M.E. Frohn-Mulder
Judith M.A. Verhagen
Marja W. Wessels
Angeliki Asimaki
Margot M. Bartelings
Serife Kurul
Jan H. von der Thüsen
Myrthe van den Born
Janneke A.E. Kammeraad
Clinical Genetics
Pediatrics
Cardiology
Pathology
Source :
Circulation-Genomic and Precision Medicine, 11(12):e002397. Lippincott Williams & Wilkins
Publication Year :
2018
Publisher :
Ovid Technologies (Wolters Kluwer Health), 2018.

Details

ISSN :
25748300
Volume :
11
Database :
OpenAIRE
Journal :
Circulation: Genomic and Precision Medicine
Accession number :
edsair.doi.dedup.....2156bbd5e363f3485a183ecc7371bc5b
Full Text :
https://doi.org/10.1161/circgen.118.002397