A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Abstract Introduction: The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the SIN3A gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmenta...

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Veröffentlicht in:	Molecular syndromology 2024-06, Vol.15 (3), p.251-256
Hauptverfasser:	Uctepe, Eyyup, Kandemir, Nefise, Bir, Firdevs Dinçsoy, Karhan, Asuman Nur, Tumer, Sait, Ondes, Emine Busra, Konuskan, Bahadır, Yesilyurt, Ahmet
Format:	Artikel
Sprache:	eng
Schlagworte:	Novel Insights from Clinical Practice
Online-Zugang:	Volltext
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