Associated Papers
Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Ressler AK et al.
Human Genomics, 2025
41366709 (PubMed )
Supplement: 40246_2025_886_MOESM1_ESM.xlsx › Extended_Data_Table_4
Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus.
Wang Z et al.
Frontiers in Oncology, 2023
37274236 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings.
Lee JH et al.
The Korean Journal of Hepatology, 2011
[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].
Luo JW et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Olivieri C et al.
Journal of Medical Genetics, 2002
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