ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

Pernille Mathiesen TorringAnette D KjeldsenLilian Bomme OusagerKlaus Brusgaard

Published in: Molecular genetics & genomic medicine (2017)

We provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT. These findings illustrate the importance of considering mutational mosaicism.

Keyphrases

case report