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Article

[Hereditary hemorrhagic telangiectasia. Report of a pediatric case].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jul 2014

Maaloul I, Aloulou H, Fourati H, Sfaihi L, Chabchoub I, Kamoun T, Mnif Z, Hachicha M

Abstract excerpt

Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24935454
DOI: 10.1016/j.arcped.2014.04.021

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24935454-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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