Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital

Aim: The aim of this retrospective single-centre study was to evaluate whether mutations in the ENG, ACVRL1, and SMAD4 genes were associated with different phenotypes in hereditary haemorrhagic telangiectasia (HHT). Methods: The case records of 21 HHT patients with verified mutations in ENG, ACVRL1,...

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Bibliographic Details
Main Authors: Torbjörn Karlsson, Honar Cherif
Format: Article
Language:English
Published: Upsala Medical Society 2018-07-01
Series:Upsala Journal of Medical Sciences
Subjects:
ACVRL1
ENG
genotype
hereditary haemorrhagic telangiectasia
phenotype
SMAD4
Online Access:http://dx.doi.org/10.1080/03009734.2018.1483452

Internet

http://dx.doi.org/10.1080/03009734.2018.1483452

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