2024
DOI: 10.1159/000536072
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A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Eyyup Uctepe,
Nefise Kandemir,
Firdevs Dinçsoy Bir
et al.

Abstract: <b><i>Introduction:</i></b> The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the <i>SIN3A</i> gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmental delay, intellectual disability, microcephaly, short stature, and subtle anomalies on brain magnetic resonance imaging (MRI). To date, about 50 patients have been rep… Show more

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