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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.

TitleMultiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
Publication TypeJournal Article
Year of Publication2016
AuthorsVargiami, E., Ververi A., Al-Mutawa H., Gioula G., Gerou S., Rouvalis F., Kambouris M., & Zafeiriou D. I.
JournalCase Rep Genet
Volume2016
Pagination3056053
Date Published2016
ISSN2090-6544
Abstract

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.

DOI10.1155/2016/3056053
Alternate JournalCase Rep Genet
PubMed ID27239352
PubMed Central IDPMC4867054

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