A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene-Reference-Cited by-同舟云学术

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A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene

Published:2021-10 Issue:10 Volume:14 Page:
ISSN:1941-9651
Container-title:Circulation: Cardiovascular Imaging
language:en
Short-container-title:Circ: Cardiovascular Imaging

Author:

Sonsöz Mehmet Rasih¹^ORCID,İli Ezgi Gökpinar²^ORCID,Gezdirici Alper²,Topel Cagdas³,Kahveci Gökhan¹,Bornaun Helen⁴^ORCID

Affiliation:

1. Department of Cardiology (M.R.S., G.K.), Basaksehir Cam & Sakura City Hospital, Istanbul, Turkey.

2. Department of Medical Genetics (E.G.İ., A.G.), Basaksehir Cam & Sakura City Hospital, Istanbul, Turkey.

3. Department of Radiology, Mehmet Akif Ersoy Cardiothoracic and Vascular Surgery Research Hospital, Istanbul, Turkey (C.T.).

4. Department of Pediatric Cardiology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Turkey (H.B.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine,Radiology, Nuclear Medicine and imaging

Link

https://www.ahajournals.org/doi/pdf/10.1161/CIRCIMAGING.121.013059

Reference4 articles.

1. Interactions of the cytoplasmic domain of the desmosomal cadherin Dsg1 with plakoglobin.

2. Naxos disease – a narrative review

3. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

4. Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

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