Novel mutations inENGandACVRL1identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference19 articles.
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3. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians;Bayrak-Toydemir;Genet Med,2004
4. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations;Berg;J Med Genet,2003
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1. Non-canonical regulation of Endoglin by rare and common variants: new molecular and clinical perspectives for Hereditary Hemorrhagic Telangiectasia and beyond;2024-01-30
2. Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele;Traffic;2024-01
3. Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature;World Journal of Gastrointestinal Surgery;2023-10-27
4. uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia;npj Genomic Medicine;2023-10-17
5. Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia;Journal of Clinical Medicine;2023-07-29
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