A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the <i>NUP188</i> gene.

Authors

Ayça Dilruba Aslanger (ORCID: https://orcid.org/0000-0003-1770-1762)
Gözde Tutku Turgut (ORCID: https://orcid.org/0000-0002-2573-6431)
Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
Umut Altunoğlu (ORCID: https://orcid.org/0000-0002-3172-5368)
Güven Toksoy (ORCID: https://orcid.org/0000-0002-8103-9980)
Birsen Karaman (ORCID: https://orcid.org/0000-0001-8640-0176)
Gülnihal Bulut