Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome
Author:
Affiliation:
1. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden
2. Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden
3. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden
Funder
Stockholm County
Swedish Medical Research Council
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36769/fullpdf
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3. A locus for isolated cleft palate, located on human chromosome 2q32;Brewer;Am J Hum Genet,1999
4. Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS;Britanova;Eur J Neurosci,2005
5. Further delineation of the SATB2 phenotype;Docker;Eur J Hum Genet,2013
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