An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Õunap, Katrin; Pajusalu, Sander; Zilina, Olga; Reimand, Tiia; Zordania, Riina.

Afiliação

Õunap K; Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.
Pajusalu S; Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia.
Zilina O; Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Institute of Molecular and Cell Biology University of Tartu Tartu Estonia.
Reimand T; Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia; Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia.
Zordania R; Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.

Clin Case Rep ; 4(8): 824-30, 2016 08.

Article em En | MEDLINE | ID: mdl-27525095