ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

ConclusionWe provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT. These findings illustrate the importance of considering mutational mosaicism. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. However, we provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmgg3.361

Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Pernille M. T ørring, Anette D. Kjeldsen, Lilian Bomme Ousager, Klaus Brusgaard Tags: CLINICAL REPORT Source Type: research

More News: Genetics | Hereditary Hemorrhagic Telangiectasia