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A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy |
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| Authors: | Zeynep Atay Abdullah Bereket Serap Turan Belma Haliloglu Aslı Memisoglu Morad Khayat Stavit A. Shalev Ronen Spiegel |
| Affiliation: | 1. Department of Pediatric Endocrinology, School of Medicine, Marmara University, ?stanbul, Turkey;2. Neonatal Intensive Care Unit, School of Medicine, Marmara University, ?stanbul, Turkey;3. Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel;4. Pediatric Department A, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel |
| Abstract: | |
| Keywords: | OXPHOS, oxidative phosphorylation IUGR, intra-uterine growth retardation NICU, neonatal intensive care unit |
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