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: | , , , |
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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 |