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