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Article

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

Molecular genetics & genomic medicine - 1 Jan 2018

Tørring Pernille M, Kjeldsen Anette D, Ousager Lilian Bomme, Brusgaard Klaus

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine...

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Source

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Identifiers

PMID: 29243366
DOI: 10.1002/mgg3.361
PMCID: PMC5823686

Genes

ENG
ACVRL1
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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