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Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia

SATB2, a gene encoding a highly conserved DNA-binding protein, is known to have an important role in craniofacial and neuronal development. Only a few patients with SATB2 variants have been described so far. Recently, Döcker et al provided a summary of these patients and delineated the SAS (SATB2-a...

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Main Authors: Kaiser, Ann-Sophie (Author) , Maas, Bianca (Author) , Wolff, Anna (Author) , Sutter, Christian (Author) , Janssen, Johannes W. G. (Author) , Hinderhofer, Katrin (Author) , Moog, Ute (Author)
Format: Article (Journal)
Language:English
Published: 2015
In: European journal of human genetics
Year: 2014, Volume: 23, Issue: 5, Pages: 704-707
ISSN:1476-5438
DOI:10.1038/ejhg.2014.163
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2014.163
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg2014163
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Author Notes:Ann-Sophie Kaiser, Bianca Maas, Anna Wolff, Christian Sutter, Johannes WG Janssen, Katrin Hinderhofer and Ute Moog

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