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Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus |
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| Authors: | Anastasia Konstantinidou Christalena Sofocleous Konstantina Kosma Areti Syrmou Krinio Giannikou Stavros Sifakis Periklis Makrythanasis Maria Tzetis |
| Institution: | 1. Department of Pathology, Medical School, University of Athens, GreeceS.K.‐T. and A.K. contributed equally to this work.;2. Department of Medical Genetics, Medical School, University of Athens, Greece;3. Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece |
| Abstract: | |
| Keywords: | array‐CGH copy number variant fetal brain fetal pathology leukodystrophy PLP1 Pelizaeus‐Merzbacher disease |