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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Sagar Venkatesh, Usha Bangalore Kantharajanna, Dhanalakshmi Kumble, Swathi Govind Naik, Pratibha Gopalakrishna
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wolters Kluwer Medknow Publications 2026-04-01
Σειρά:	Journal of Applied Hematology
Θέματα:	cerebral infarction familial erythrocytosis polycythemia von hippel–lindau protein whole exome sequencing
Διαθέσιμο Online:	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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