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Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.

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第一作者: Leo,Arkush
第一单位: Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
作者单位: Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. [1] Dept Neuroscience, Dept of Clinical Genetics and Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam, The Netherlands. [2] Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel. [3] Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. [4] Dept Neuroscience, Erasmus MC, Rotterdam, The Netherlands. [5] Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel. [6] Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.;Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. [7] Department of Diagnostic Imaging, Sheba Medical Center, Ramat-Gan, Israel. [8] Pediatric Neurology Unit, Emek Medical Center, Afula, Israel. [9] Department of Pediatrics, Baruch Padeh Medical Center, Poriya, Israel. [10] Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.;Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. [11] Unit of Inherited Metabolic Disorders, Ziv Medical Center, Safed, Israel.;Institute of Human Genetics, Ziv Medical Center, Safed, Israel. [12] Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.;SNF Center for Precision Psychiatry & Mental Health, Columbia University, New York, NY, USA. [13] Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.;Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. [14] Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. galih.md@gmail.com.;Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. galih.md@gmail.com. [15]
DOI 10.1038/s41431-025-01918-6
PMID 40745490
发布时间 2025-10-02
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European journal of human genetics : EJHG

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