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Prenatal diagnosis of muscle-eye-brain disease |
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| Authors: | Burcu Balci Deborah J. Morris-Rosendahl Asli Çelebi Beril Talim Haluk Topaloǧlu Pervin Dinçer |
| Affiliation: | 1. Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sıhhiye, Ankara, Turkey;2. Albert-Ludwigs University of Freiburg, Institute for Human Genetics and Anthropology, Freiburg, Germany;3. Hacettepe University, Faculty of Medicine, Department of Pediatric Neurology, Sıhhiye, Ankara, Turkey;4. Hacettepe University, Faculty of Medicine, Department of Pediatric Pathology, Sıhhiye, Ankara, Turkey |
| Abstract: | |
| Keywords: | prenatal diagnosis muscle-eye-brain disease POMGNT1 novel mutation |