A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review
This study presents a patient who exhibited a wide range of behavioral abnormalities, stroke, and recurrent urolithiasis - features that are rarely reported in ZTTK syndrome - and includes a review of the literature.
Authors
- Murat Öztürk (ORCID: https://orcid.org/0000-0002-9677-3651)
- İbrahim Tekedereli (ORCID: https://orcid.org/0000-0002-3300-8020)
- Ahmet Sığırcı (ORCID: https://orcid.org/0000-0001-9221-0002)
- Kübra Ateş (ORCID: https://orcid.org/0000-0002-0669-8230)
- Zeynep Esener (ORCID: https://orcid.org/0000-0001-6579-6132)
Institutions
- Sakarya University (TR)
- Balıkesir University (TR)
- University of Turku (FI)
- Inonu University (TR)
- Batman University (TR)
- Sakarya Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1159/000546621
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00