8p23.1 deletion : Look out for left ventricular hypertrabeculation and not only congenital heart diseases . Single ‐ center experience and literature revision-Reference-Cited by-同舟云学术

8p23.1 deletion : Look out for left ventricular hypertrabeculation and not only congenital heart diseases . Single ‐ center experience and literature revision

Published:2021-12-13 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cicenia Marianna¹,Alesi Viola²,Orlando Valeria²,Magliozzi Monia²,Di Tommaso Silvia²,Iodice Francesca G.³,Pompei Emanuela¹,Toscano Alessandra⁴,Digilio Maria C.¹,Drago Fabrizio¹,Novelli Antonio²,Baban Anwar¹^ORCID

Affiliation:

1. The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart‐ERN GUARD‐Heart, Pediatric Cardiology and Arrhythmia/Syncope Units Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Laboratory of Medical Genetics Bambino Gesù Children's Hospital, IRCCS Rome Italy

3. Pediatric Cardiac Anesthesia and Intensive Care Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

4. Department of Medical and Surgical Neonatology Bambino Gesù Children's Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62598

Reference44 articles.

1. De novo 8p23.1 deletion in a patient with absence epilepsy

2. An adult female with 5q34‐q35.2 deletion: A rare syndromic presentation of left ventricular non‐compaction and congenital heart disease. Europen;Arya P.;Journal of Medical Genetics,2019

3. Holt‐Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation;Baban A.;American Journal of Medical Genetics A,2014

4. Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

5. Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

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1. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22

2. Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis;Taiwanese Journal of Obstetrics and Gynecology;2023-01

3. Copy-number variation in congenital heart disease;Current Opinion in Genetics & Development;2022-12

4. Associations of Transcription Factor 21 Gene Polymorphisms with the Growth and Body Composition Traits in Broilers;Animals;2022-02-08