Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
Joint Authors
Ververi, Athina
Al-Mutawa, Hamda
Gioula, Georgia
Gerou, Spyridon
Rouvalis, Fotios
Kambouris, Marios
Vasiliadis, Konstantinos
Zafeiriou, D. I.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth.
It is caused by 9q34.3 microdeletions or EHMT1 mutations.
Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described.
She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
American Psychological Association (APA)
Vasiliadis, Konstantinos& Ververi, Athina& Al-Mutawa, Hamda& Gioula, Georgia& Gerou, Spyridon& Rouvalis, Fotios…[et al.]. 2016. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100754
Modern Language Association (MLA)
Vasiliadis, Konstantinos…[et al.]. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100754
American Medical Association (AMA)
Vasiliadis, Konstantinos& Ververi, Athina& Al-Mutawa, Hamda& Gioula, Georgia& Gerou, Spyridon& Rouvalis, Fotios…[et al.]. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100754
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100754