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Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations

✍ Scribed by Pınar Bayrak-Toydemir; Jamie McDonald; Boaz Markewitz; Susan Lewin; Franklin Miller; Lan-Szu Chou; Friederike Gedge; Wei Tang; Hillary Coon; Rong Mao


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
337 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-b binding protein which maps to chromosome 9q3, is the