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

Familial cardiac valvulopathy due to filamin A mutation.

American journal of medical genetics. Part A - 1 Sept 2011

Bernstein Jonathan A, Bernstein Daniel, Hehr Ute, Hudgins Louanne

Abstract excerpt

We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve di...

Read the complete abstract on PubMed

Topics

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

Share to Contractile Proteins
Share to Filamins
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Heart Valve Diseases

Share to Heart Valves

Share to Microfilament Proteins

Share to Pedigree

Source

Identifiers

PMID: 21815255
DOI: 10.1002/ajmg.a.34132

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21815255-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial cardiac valvulopathy due to filamin A mutation.PMID 21815255Read ↗

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.Semantic proximity Read ↗

Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve diseaseSemantic proximity Read ↗

Combined cardiological and neurological abnormalities due to filamin A gene mutation.Semantic proximity Read ↗

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.Semantic proximity Read ↗

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.Semantic proximity Read ↗

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.Semantic proximity Read ↗

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.Semantic proximity Read ↗

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.Semantic proximity Read ↗

Expression of the familial cardiac valvular dystrophy gene, filamin‐A, during heart morphogenesisSemantic proximity Read ↗

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Semantic proximity Read ↗

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human CardiomyopathySemantic proximity Read ↗

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.Semantic proximity Read ↗

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