Multiple heart malformations in a patient with Holt—Oram syndrome
Holt—Oram syndrome is a rare genetic disease characterized by an abnormality of the upper limb, congenital heart disease and / or conduction abnormalities. The disease is caused by the mutations in the Tbox5 gene (allocation 12q24.21), inherited in an autosomal dominant manner. Heart septal defects...
Main Authors: | I. A. Soynov, D. A. Dultceva, A. V. Leykekhman, A. N. Arkhipov |
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Format: | Article |
Language: | Russian |
Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2020-11-01
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Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
Subjects: | |
Online Access: | https://www.ped-perinatology.ru/jour/article/view/1241 |
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