Rantamäki T

No ORCID on file · 1 paper in corpus
1999
American journal of human genetics ·doi:10.1086/302309

Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN…