BARTH SYNDROME IN PRACTICE OF CARDIOLOGY
Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric development. In the article, a clinical case pr...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
«FIRMA «SILICEA» LLC
2018-04-01
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Series: | Российский кардиологический журнал |
Subjects: | |
Online Access: | https://russjcardiol.elpub.ru/jour/article/view/2654 |