Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.
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| Title: | Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events. |
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| Authors: | Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel., Pode-Shakked B; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Marek-Yagel D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Vernitsky H; Hematology Laboratory, Sheba Medical Center, Ramat Gan, Israel., Tzadok M; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Eyal E; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Atzmon G; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Medicine, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Human Biology, Haifa University, Haifa, Israel., Anikster Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. |
| Source: | Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 179-187. Date of Electronic Publication: 2024 Oct 19. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14629 |
