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

Novel no-stop FLNA mutation causes multi-organ involvement in males.

American journal of medical genetics. Part A - 1 Sept 2013

Oegema Renske, Hulst Jessie M, Theuns-Valks Sabine D M, van Unen Leontine M A, Schot Rachel, Mancini Grazia M S, Schipper Marguerite E I, de Wit Marie C Y, Sibbles Barbara J, de Coo Irenaeus F M, Nanninga Veerle, Hofstra Robert M W, Halley Dicky J J, Brooks Alice S

Abstract excerpt

Mutations in FLNA (Filamin A, OMIM 300017) cause X-linked periventricular nodular heterotopia (XL-PNH). XL-PNH-associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Filamins

Share to Magnetic Resonance Imaging

Share to Mutation, Missense

Share to Radiography

Share to Spleen

Source

Identifiers

PMID: 23873601
DOI: 10.1002/ajmg.a.36109

Genes

FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23873601-2026-09-04.2. 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

Novel no-stop FLNA mutation causes multi-organ involvement in males.PMID 23873601Read ↗

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Semantic proximity Read ↗

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.Semantic proximity Read ↗

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndromeSemantic proximity Read ↗

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

Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.Semantic proximity Read ↗

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.Semantic proximity Read ↗

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.Semantic proximity Read ↗

Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.Semantic proximity Read ↗

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

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Semantic proximity Read ↗

Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.Semantic proximity Read ↗

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.Semantic proximity Read ↗

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