Clinical diagnostics of fibrillinopathies (type 1)
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the acromelic group of dysplasias (such as geleophysi...
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| Main Author: | E. L. Trisvetova |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
«FIRMA «SILICEA» LLC
2013-04-01
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| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/372 |
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