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

Compound-heterozygous Marfan syndrome.

European journal of medical genetics - 1 Jan 2000

Van Dijk F S, Hamel B C, Hilhorst-Hofstee Y, Mulder B J M, Timmermans J, Pals G, Cobben J M

Abstract excerpt

We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other allele. The phenotype of the compound-heterozygo...

Read the complete abstract on PubMed

Topics

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

Share to Fibrillin-1
Share to Family Health
Share to Fibrillins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Musculoskeletal Abnormalities

Share to Mutation, Missense

Source

Identifiers

PMID: 19059503
DOI: 10.1016/j.ejmg.2008.11.004

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19059503-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Compound-heterozygous Marfan syndrome.PMID 19059503Read ↗

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.Semantic proximity Read ↗

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.Semantic proximity Read ↗

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.Semantic proximity Read ↗

Double somatic mosaicism in Marfan syndrome.Semantic proximity Read ↗

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.Semantic proximity Read ↗

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.Semantic proximity Read ↗

Identification of Loci Modulating the Cardiovascular and Skeletal Phenotypes of Marfan Syndrome in Mice.Semantic proximity Read ↗

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.Semantic proximity Read ↗

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