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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Bibliographic Details
Main Author: E. L. Trisvetova
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2013-04-01
Series:Российский кардиологический журнал
Subjects:
Online Access:https://russjcardiol.elpub.ru/jour/article/view/372