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

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Journal of medical genetics - 1 Sept 1996

Wang M, Kishnani P, Decker-Phillips M, Kahler S G, Chen Y T, Godfrey M

Abstract excerpt

It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tricuspid valve involvement and aortic root dilatation, and die of congestive heart failure, often in the first year of life. Although mutations in classical MFS...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Infant

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8880577
DOI: 10.1136/jmg.33.9.760
PMCID: PMC1050731

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.PMID 8880577Read ↗

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.Semantic proximity Read ↗

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Semantic proximity Read ↗

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.Semantic proximity Read ↗

A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.Semantic proximity Read ↗

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.Semantic proximity Read ↗

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.Semantic proximity Read ↗

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Semantic proximity Read ↗

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.Semantic proximity Read ↗

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.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 ↗

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.Semantic proximity Read ↗

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.Semantic proximity Read ↗

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