Pediatric Familial Erythrocytosis Type 2 due to a Homozygous von Hippel–Lindau Variant Presenting with Cerebral Infarcts
Familial erythrocytosis type 2 (ECYT2), also known as Chuvash polycythemia, is a rare autosomal recessive disorder caused by pathogenic variants in the von Hippel–Lindau (VHL) gene, resulting in dysregulated oxygen sensing and increased erythropoietin (EPO) production. Pediatric cases are uncommon,...
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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wolters Kluwer Medknow Publications
2026-04-01
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| Серія: | Journal of Applied Hematology |
| Предмети: | |
| Онлайн доступ: | https://www.ovid.com/jnls/jaht/fulltext/10.4103/joah.joah_5_26~pediatric-familial-erythrocytosis-type-2-due-to-a-homozygous |
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