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Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
(Sociedade Brasileira de Genética, 2020)
Acceso abierto
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have ...