Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation

These findings expand the phenotypic spectrum associated with <i>SIN3A</i> variants and highlight the importance of comprehensive genetic testing in atypical presentations of rare diseases. The inclusion of <i>SIN3A</i> in HH gene panels may aid molecular diagnosis in cases without apparent syndromic findings. This study contributes to the understanding of the phenotypic and genotypic heterogeneity of WITKOS.

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Publication Details

Journal
Molecular Syndromology
Published
2025-11-13
DOI
https://doi.org/10.1159/000549497
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation

Hakan Döneray, Ayşe Özden, Ayberk Türkyılmaz, Oğuzhan Bahadir et al.
Molecular Syndromology
Skin and Cellular Biology Research
article

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation

Hakan Döneray, Ayşe Özden, Ayberk Türkyılmaz, Oğuzhan Bahadir, Tuna Apuhan, Mustafa Yılmaz
article en

Abstract

These findings expand the phenotypic spectrum associated with <i>SIN3A</i> variants and highlight the importance of comprehensive genetic testing in atypical presentations of rare diseases. The inclusion of <i>SIN3A</i> in HH gene panels may aid molecular diagnosis in cases without apparent syndromic findings. This study contributes to the understanding of the phenotypic and genotypic heterogeneity of WITKOS.

Molecular Syndromology
Karadeniz Technical University (TR), Ankara Spine Center (TR), Atatürk University (TR)
Openalex Percentile: Top 64%
Skin and Cellular Biology Research
DOIOpen Access PDFOpenAlex
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Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation — Hakan Döneray, Ayşe Özden, et al. · Molecular Syndromology (2025) | TGRS Research Map | TGRS