Search
Search Results
-
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is...
-
Snoring and aortic dimension in Marfan syndrome
Recent reports suggest that self-reported snoring, which is a feature of obstructive sleep apnea, is associated with aortic enlargement in Marfan...
-
Sleep apnea predicts cardiovascular death in patients with Marfan syndrome: a cohort study
BackgroundSurgical replacement of the aortic root is the only intervention that can prevent aortic dissection and cardiovascular death in Marfan...
-
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
BackgroundMarfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic...
-
Genome-wide methylation patterns in Marfan syndrome
BackgroundMarfan syndrome (MFS) is a connective tissue disorder caused by mutations in the Fibrillin-1 gene (FBN1). Here, we undertook the first...
-
Pathophysiology and Pathogenesis of Marfan Syndrome
Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While...
-
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
PurposeIndividuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature,...
-
A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
BackgroundMarfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant...
-
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
PurposeMarfan syndrome (MFS) is a connective tissue disorder in which several systems are affected with great phenotypic variability. Although known...
-
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although...
-
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat...
-
Meester-Loeys Syndrome
Meester-Loeys syndrome is an X-linked form of syndromic thoracic aortic aneurysm, characterized by the involvement of multiple organ systems. More...
-
Castleman disease and SLE in a G6PD-deficient Marfan patient: a case report and literature review
IntroductionMarfan syndrome, G6PD deficiency, systemic lupus erythematosus (SLE), and Castleman disease are four distinctive, thoroughly investigated...
-
Is HSPG2 a modifier gene for Marfan syndrome?
Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence the manifestations of...
-
Atypical Sotos syndrome caused by a novel splice site variant
Sotos syndrome is usually caused by haploinsufficiency of NSD1 ; it is characterized by overgrowth, craniofacial features, and learning disabilities....
-
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
Marfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal...
-
Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome
Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA...
-
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis,...
-
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN , an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic...
