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

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.

American journal of medical genetics. Part A - 1 Jul 2018

McDonald Jamie, Wooderchak-Donahue Whitney L, Henderson Katharine, Paul Eleri, Morris Ashley, Bayrak-Toydemir Pinar

Abstract excerpt

Mosaicism in hemorrhagic telangiectasia (HHT) has been previously identified when testing blood samples of HHT patients. We report the first detection of mosaicism not involving blood of a family proband, and discuss implications for genetic testing algorithms in HHT families. Sanger sequencing and large deletion/duplication analysis in a patient with HHT identified no pathogenic variant in ENG, ACVRL1, or SMAD4....

Read the complete abstract on PubMed

Topics

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

Share to Family
Share to ACVRL1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ENG gene

Share to Genetic Markers

Share to Genetic Testing

Share to Mosaicism

Share to Mutation

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 29736967
DOI: 10.1002/ajmg.a.38695

Genes

ENG
ACVRL1
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.PMID 29736967Read ↗

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).Semantic proximity Read ↗

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.Semantic proximity Read ↗

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.Semantic proximity Read ↗

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new eraSemantic proximity Read ↗

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of <i>ENG</i> or <i>ACVRL1</i>Semantic proximity Read ↗

[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

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