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Article

Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.

Placenta - 1 Jan 2000

Chan N L M, Bourdeau A, Vera S, Abdalla S, Gross M, Wong J, Cymerman U, Paterson A D, Mullen B, Letarte M

Abstract excerpt

Hereditary haemorrhagic telangiectasia, HHT, is an autosomal dominant disorder that affects approximately 1 in 8000 people. HHT1 is associated with mutations in the ENG (Endoglin) gene and with haploinsufficiency. The disorder is characterized by focally dilated vessels, which can lead to arteriovenous malformations and serious complications even in young children. In the current study, umbilical cord and...

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Identifiers

PMID: 14972453
DOI: 10.1016/S0143-4004(03)00181-4

Genes

ENG

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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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