Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

BMC musculoskeletal disorders - 15 Feb 2016

Reyes-Hernández Octavio D, Palacios-Reyes Carmen, Chávez-Ocaña Sonia, Cortés-Malagón Enoc M, Alonso-Themann Patricia Garcia, Ramos-Cano Víctor, Ramírez-Bello Julián, Sierra-Martínez Mónica

Abstract excerpt

BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Diseases, Developmental
Share to Fibrillin-1

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibrillins

Share to Heterozygote

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Pedigree

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 26875674
DOI: 10.1186/s12891-016-0935-9
PMCID: PMC4753669

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.PMID 26875674Read ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.Semantic proximity Read ↗

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.Semantic proximity Read ↗

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].Semantic proximity Read ↗

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.Semantic proximity Read ↗

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.Semantic proximity Read ↗

Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene.Semantic proximity Read ↗

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Semantic proximity Read ↗

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.Semantic proximity Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.