The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 3
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria
Tülay Öncü-Öner 1 ,Aycan Ünalp 2 ,İlknur Porsuk-Doru 1 ,Sinem Ağılkaya 1 ,Handan Güleryüz 3 ,Aydan Saraç 4 ,Bekir Ergüner 5 ,Bayram Yüksel 4 ,Semra Hız-Kurul 6 ,Sultan Cingöz 1
1 Departments of Medical Biology and Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
2 Department of Pediatric Neurology, Dr. Behcet Uz Children’s Hospital, İzmir, Turkey
3 Departments of Pediatric Radiology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
4 Genetic Engineering and Biotechnology Institute, TUBITAK Marmara Research Center
5 Advanced Genomics and Bioinformatics Research Center (İGBAM), The Scientific and Technological Research Council of Turkey (TUBITAK), BİLGEM, Kocaeli, Turkey
6 Departments of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
DOI : 10.24953/turkjped.2018.03.001 Keywords :
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