Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances
Author:
Publisher
American Society for Clinical Investigation
Link
https://www.jci.org/articles/view/176379/files/pdf
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2. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
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4. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
5. National Library of Medicine. ClinVar. https://www.ncbi.nlm.nih.gov/clinvar/ Accessed November 9, 2023
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