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Oxford University Press

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ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

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The ACVRL1 c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations

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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2

By Srinivasan S.  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 473-482

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Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance

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