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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access April 9, 2010

SATB2 haploinsufficiency in patients with cleft palate

  • Karin Writzl EMAIL logo , Luca Lovrečić , Ján Vojtaššák and Borut Peterlin
From the journal Open Medicine

Abstract

De novo translocation interrupting the transcription unit of SATB2 gene has been associated with cleft palate only (CPO). We tested for the presence of the copy number of SATB2 gene in a sample of 92 patients with CPO using a quantitative real-time PCR approach. In one patient (1%, 95% CI = 0.2%–6%), a 19 Mb de novo deletion encompassing the SATB2 gene was detected. These results suggest that SATB2 gene deletions do not play an important role in the etiology of cleft palate.

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Published Online: 2010-4-9
Published in Print: 2010-6-1

© 2010 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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