NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Sandestig A.1 , Engström K.1, Pepler A.2 , Danielsson I.3, Odelberg-Johnsson P.3 , Biskup S.2 , Holz A.2 , Stefanova M.1 .
    1. Department of Clinical Genetics, Linköping University Hospital, Linköping , Sweden.
    2. CeGaT GmbH, and Praxis für Humangenetik, Tübingen , Germany.
    3. Department of Neonatology, Linköping University Hospital, Linköping , Sweden