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Updated: Sep 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review

Kubra Ates1, Murat Ozturk2, Zeynep Esener3

  • 1Department of Medical Genetics, Sakarya University Training and Research Hospital, Sakarya, Türkiye.

Molecular Syndromology
|July 10, 2025
PubMed
Abstract

Keywords:
Delins variantDevelopmental delayIntellectual disabilitySONZhu-Tokita-Takenouchi-Kim syndrome

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