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
A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.
Korulmaz A et al.
Molecular Syndromology, 2022
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