ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.361
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT… read more here.
Keywords: hereditary hemorrhagic; mosaicism; mutational mosaicism; hemorrhagic telangiectasia ... See more keywords