Diagnostics of inherited connective tissue disorders: achievements and future directions

Autor:	E. V. Zemtsovskyi, E. G. Malev, S. V. Reeva, E. B. Luneva, N. N. Parfenova, M. Yu. Lobanov, E. L. Belyaeva, E. V. Vyutrikh, E. V. Timofeev, T. I. Belousova, O. A. Bergmane, B. I. Zaripov, A. L. Korshunova, I. A. Pankova
Jazyk:	ruština
Rok vydání:	2013
Předmět:	inherited connective tissue disorders inherited dysplastic syndromes and phenotypes mitral valve prolapse marfanoid habitus Diseases of the circulatory (Cardiovascular) system RC666-701
Zdroj:	Российский кардиологический журнал, Vol 0, Iss 4, Pp 38-43 (2013)
Druh dokumentu:	article
ISSN:	1560-4071 2618-7620
DOI:	10.15829/1560-4071-2013-4-38-43
Popis:	The paper reviews general factors underlying the variety of clinical manifestations of inherited connective tissue disorders (ICTD). The authors make an attempt to harmonise the existing ICTD terminology with the standard international classification. It is proposed to use the Russian term “dysplasia” as a synonym of ICTD and to divide all ICTD into inherited syndromes (IS) and dysplastic phenotypes. An example of fibrillinopathies is used to consider the clinical polymorphism and genetic heterogeneity of IS. The clinical significance of Marfanoid habitus as a phenotype is also discussed.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/125360b2b6194b859ccdc4d1e23aefef Zobrazit plný text záznamu View record in DOAJ