Associated Papers
A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.
Almalki F et al.
American Journal of Medical Genetics. Part A, 2026
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.
Bulut G et al.
Molecular Syndromology, 2025
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Sandestig A et al.
Molecular Syndromology, 2020
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