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Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Verhagen, JMA; van den Born, M; Kurul, S; Asimaki, A; van de Laar, IMBH; Frohn-Mulder, IME; Kammeraad, JAE; Yap, SC; Bartelings, MM; van Slegtenhorst, MA; et al. Verhagen, JMA; van den Born, M; Kurul, S; Asimaki, A; van de Laar, IMBH; Frohn-Mulder, IME; Kammeraad, JAE; Yap, SC; Bartelings, MM; van Slegtenhorst, MA; von der Thüsen, JH; Wessels, MW (2018) Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome. Circ Genom Precis Med, 11 (12). e002397. ISSN 2574-8300 https://doi.org/10.1161/CIRCGEN.118.002397
SGUL Authors: Asimaki, Angeliki

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Item Type: Article
Additional Information: This is a non-final version of an article published in final form in Verhagen, JMA; van den Born, M; Kurul, S; Asimaki, A; van de Laar, IMBH; Frohn-Mulder, IME; Kammeraad, JAE; Yap, SC; Bartelings, MM; van Slegtenhorst, MA; et al. (2018) Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome. Circ Genom Precis Med, 11 (12)
Keywords: family, genetic testing, heart defects, congenital, hypoplastic left heart syndrome, mutation, myocardium, plakophilin, family, genetic testing, heart defects, congenital, hypoplastic left heart syndrome, mutation, myocardium, plakophilin, family, genetic testing, heart defects, congenital, hypoplastic left heart syndrome, mutation, myocardium, plakophilin
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Circ Genom Precis Med
ISSN: 2574-8300
Language: eng
Dates:
DateEvent
December 2018Published
7 December 2018Published Online
13 November 2018Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
2014T007Dutch Heart FoundationUNSPECIFIED
UNSPECIFIEDErasmus University Rotterdamhttp://dx.doi.org/10.13039/501100001828
PubMed ID: 30562116
Web of Science ID: WOS:000453895700009
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/110510
Publisher's version: https://doi.org/10.1161/CIRCGEN.118.002397

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