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Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype.

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Bibliographic Details
Title: Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype.
Authors: Bar-Hakim M; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Abramovich A; Pediatric Neurology and Development Center Shamir Medical Center, Be'er Ya'akov, Israel., Via-Dorembus S; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Heimer G; 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., 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., Adam E; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Barg AA; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Division of Pediatric Hematology and Oncology, the Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Roth J; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv, Israel., Sheick-Yousif B; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Vascular Surgery Department, Tel Aviv Medical Center, Tel Aviv, Israel., Berkowiz RB; Pediatric Intensive Care Unit, Shamir Medical Center (Assaf Harofeh), Be'er Ya'akov, Israel., Feldon M; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Rheumatology Unit, Shamir Medical Center (Assaf Harofeh), Be'er Ya'akov, Israel., Bassan H; Pediatric Neurology and Development Center Shamir Medical Center, Be'er Ya'akov, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Hausman-Kedem M; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun 23. Date of Electronic Publication: 2026 Jun 23.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.70232