Article
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
European journal of human genetics : EJHG - 1 Mar 2025
Karakaya Mert, Ragab Iman, Riehmer Vera, Erger Florian, Aly Nihal Hussien, Ryu Seung Woo, Seo Go Hun, Hoemberg Marc, Schultheis Anne Maria, Netzer Christian, Decarolis Boris
Abstract excerpt
Primary intraosseous vascular malformation (VMPI, #606893) is an ultra-rare disorder caused by biallelic pathogenic variants in ELMO2. To date, only six families with pathogenic ELMO2 variants causing a VMPI phenotype have been described. VMPI is characterized by vascular malformations that compress the facial bones, often leading to life-threatening complications, such as massive bleeding and intracranial...
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