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

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Circulation - 4 Dec 2012

Iascone Maria, Sana Maria Elena, Pezzoli Laura, Bianchi Paolo, Marchetti Daniela, Fasolini Giorgio, Sadou Youcef, Locatelli Anna, Fabiani Flavia, Mangili Giovanna, Ferrazzi Paolo

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Arteries
Share to Extracellular Matrix Proteins
Share to Infant
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Joint Instability

Share to Severity of Illness Index

Share to Skin Diseases, Genetic

Share to Vascular Malformations

Source

Identifiers

PMID: 23212998
DOI: 10.1161/CIRCULATIONAHA.112.119883

Genes

EFEMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.PMID 23212998Read ↗

Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation.Semantic proximity Read ↗

Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patientsSemantic proximity Read ↗

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.Semantic proximity Read ↗

Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations.Semantic proximity Read ↗

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New MutationSemantic proximity Read ↗

Multisystem Caliber-Persistent Arteriopathy Syndrome: A Novel Congenital Vasculopathy Associated with a Risk of Multiorgan HemorrhageSemantic proximity Read ↗

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).Semantic proximity Read ↗

Arterial tortuosity syndrome: 40 new families and literature review.Semantic proximity Read ↗

The natural history of a family with aortic dissection associated with a novel ACTA2 variant.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.Semantic proximity Read ↗

Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations in 4 newly identified patients.Semantic proximity Read ↗

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