Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.

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Title: Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.
Authors: Arkush L; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., van Woerden GM; Dept Neuroscience, Dept of Clinical Genetics and Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam, The Netherlands., Ziv L; Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Marek-Yagel D; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Fonseca R; Dept Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Brevé E; Dept Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Shalva N; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Veber A; Metabolic Disease Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Anikster Y; 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., Ben-Ami Raichman D; Department of Diagnostic Imaging, Sheba Medical Center, Ramat-Gan, Israel., Musallam B; Pediatric Neurology Unit, Emek Medical Center, Afula, Israel., Marcu S; Department of Pediatrics, Baruch Padeh Medical Center, Poriya, Israel., Nissenkorn A; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel., Mandel H; Unit of Inherited Metabolic Disorders, Ziv Medical Center, Safed, Israel.; Institute of Human Genetics, Ziv Medical Center, Safed, Israel., Kushner SA; 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., Ben Zeev B; 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., Heimer G; 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.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1271-1280. Date of Electronic Publication: 2025 Jul 31.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-025-01918-6