A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

  title={A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7},
  author={Pinar Bayrak-Toydemir and Jamie McDonald and Nurten A Akarsu and Reha M. Toydemir and Fernanda R. O. Calderon and Timur Tuncalı and Wei Tang and Franklin Miller and Rong Mao},
  journal={American Journal of Medical Genetics Part A},
Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous multisystem vascular dysplasia. Mutations of the endoglin and ACVRL1 genes are known to cause HHT. However, existence of HHT families in which linkage to these genes has been excluded has suggested that other gene(s) can cause HHT in some families. Recently, a family was reported to be linked to chromosome 5q, the HHT3 locus. Here we report on linkage results on a family with classic features of HHT… 

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by widespread arteriovenous malformations and caused by mutations in two major genes: ENG and ACVRL1. Two

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