Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Hoppe, Anne; Heinemeyer, Jan; Klopocki, Eva; Graul-Neumann, Luitgard M; Spors, Birgit; Bittigau, Petra; Kaindl, Angela M

Hoppe, Anne; Heinemeyer, Jan; Klopocki, Eva; Graul-Neumann, Luitgard M; Spors, Birgit; Bittigau, Petra; Kaindl, Angela M.

Afiliação

Hoppe A; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Heinemeyer J; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Klopocki E; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; Institute for Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany.
Graul-Neumann LM; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Spors B; Department of Pediatric Radiology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Bittigau P; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Kaindl AM; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; Institute of Neuroanat

Meta Gene ; 2: 72-82, 2014 Dec.

Article em En | MEDLINE | ID: mdl-25606391