Miller-Dieker syndrome and monosomy 17p13:a new case |
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| Authors: | A Selypes A László |
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| Institution: | (1) Department of Hygiene and Epidemiology, Albert Szent-Györgyi Medical University, Dóm tér 10, H-6720 Szeged, Hungary;(2) Department of Pediatrics, Albert Szent-Györgyi Medical University, Korányi fasor 14, H-6720 Szeged, Hungary |
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| Abstract: | Summary A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed. |
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