- Cytogenetically invisible microdeletions involving PITX2 in Rieger syndromeE Engenheiro
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
Clin Genet 72:464-70. 2007..One patient had a t(4;17)(q25;q22)dn translocation with a deletion at the 4q breakpoint, and the other patient had an interstitial deletion of 4q25. Both deletions included only the PITX2 and ENPEP (glutamyl aminopeptidase) genes...
- Mowat-Wilson syndrome: an underdiagnosed syndrome?E Engenheiro
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Molecular and Cellular Medicine, The Panum Institute, University of Copenhagen, Denmark
Clin Genet 73:579-84. 2008..We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively...