Sandestig A, Engström K, Pepler A, Danielsson I, Odelberg-Johnsson P, Biskup S, Holz A, Stefanova M. NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? Mol Syndromol. 2020 Jan;10(6):313–9. PMID: 32021605; PMCID: PMC6995945.