Molecular and genetic basis of variability in clinical manifestations of Marfan syndrome-Reference-Cited by-同舟云学术

Molecular and genetic basis of variability in clinical manifestations of Marfan syndrome

Published:2023-04-27 Issue:2 Volume:68 Page:29-38
ISSN:2500-2228
Container-title:Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
language:
Short-container-title:Ross. vestn. perinatol. pediatr.

Author:

Gritsevskaya D. Yu.¹^ORCID,Smirnova A. V.¹^ORCID,Voinova V. Yu.¹^ORCID

Affiliation:

1. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University

Abstract

Marfan syndrome is an inherited connective tissue disease with autosomal dominant inheritance and pronounced phenotypic variability, which is highly likely to be caused by genetic modifiers. This review presents the molecular characterization of fibrillin-1, the protein product of the disease-associated FBN1 gene, the genotype-phenotype correlations studied to date, and the results of the search for possible genetic modifiers.

Publisher

The National Academy of Pediatric Science and Innovation

Subject

Pediatrics, Perinatology and Child Health

Reference41 articles.

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