Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

Ilyas Ahmad; Jeanette Erdmann; Hafiza Noor Ul Ayan; Pir  Sheraz Ali; Asad Aslam Korejo; Holger Thiele

doi:10.1111/cge.14321

Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

Ilyas Ahmad^*, Jeanette Erdmann, Hafiza Noor Ul Ayan (Geteilte Erstautorenschaft), Pir Sheraz Ali (Geteilte Erstautorenschaft), Asad Aslam Korejo, Holger Thiele

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Kardiogenetik

National Institute of Cardiovascular Diseases Pakistan
Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany

2 Zitate (Scopus)

Originalsprache	Englisch
Zeitschrift	Clinical Genetics
Jahrgang	104
Ausgabenummer	2
Seiten (von - bis)	266-268
Seitenumfang	3
ISSN	0009-9163
DOIs	https://doi.org/10.1111/cge.14321
Publikationsstatus	Veröffentlicht - 27.02.2023

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Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 5 – Gender Equality

Dokumente

10.1111/cge.14321

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author = "Ilyas Ahmad and Jeanette Erdmann and \{Noor Ul Ayan\}, Hafiza and \{Sheraz Ali\}, Pir and \{Aslam Korejo\}, Asad and Holger Thiele",

note = "Funding Information: We thank the patient and her family members who participated in this research. We are grateful to Sandra Wrobel for her technical assistance. Funding was awarded by the German Research Foundation (DFG) (AH 357/3‐1) to Ilyas Ahmad. Open Access funding enabled and organized by Projekt DEAL. Funding Information: Deutsche Forschungsgemeinschaft, Grant/Award Number: AH 357/3‐1; Institutional funding by the University of L{\"u}beck, L{\"u}beck, Germany (to JE) Funding information",

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doi = "10.1111/cge.14321",

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Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy. / Ahmad, Ilyas; Erdmann, Jeanette; Noor Ul Ayan, Hafiza (Geteilte Erstautorenschaft) et al.
in: Clinical Genetics, Jahrgang 104, Nr. 2, 27.02.2023, S. 266-268.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

T1 - Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

AU - Ahmad, Ilyas

AU - Erdmann, Jeanette

AU - Aslam Korejo, Asad

AU - Thiele, Holger

A2 - Noor Ul Ayan, Hafiza

A2 - Sheraz Ali, Pir

N1 - Funding Information: We thank the patient and her family members who participated in this research. We are grateful to Sandra Wrobel for her technical assistance. Funding was awarded by the German Research Foundation (DFG) (AH 357/3‐1) to Ilyas Ahmad. Open Access funding enabled and organized by Projekt DEAL. Funding Information: Deutsche Forschungsgemeinschaft, Grant/Award Number: AH 357/3‐1; Institutional funding by the University of Lübeck, Lübeck, Germany (to JE) Funding information

PY - 2023/2/27

Y1 - 2023/2/27

UR - https://www.scopus.com/pages/publications/85150599331

UR - https://www.mendeley.com/catalogue/289158e4-16d6-3755-8761-34546b01764c/

U2 - 10.1111/cge.14321

DO - 10.1111/cge.14321

M3 - Journal articles

SN - 0009-9163

VL - 104

SP - 266

EP - 268

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -