Article
GNE Mutation-related Congenital Thrombocytopenia in 2 Siblings: Case Reports and Literature Review.
Journal of pediatric hematology/oncology - 1 Jan 2026
Düzenli Kar Yeter, Sezgin Evim Melike, Mete Ugur Cem, Ayyildiz Emecan Durdugül, Atik Tahir, Meral Güneş Adalet
Abstract excerpt
BACKGROUND: GNE mutations are rare pathologic conditions that can cause severe thrombocytopenia and bleeding tendency from the neonatal period. The clinical presentation of patients with GNE mutations varies from mild skin and mucosal bleeding to life-threatening bleeding. CASE PRESENTATION: This study reported two siblings with hereditary thrombocytopenia. The 2 patients exhibited severe thrombocytopenia...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.