Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation

Fan, Junjie; Ling, Jing; Zhou, Huifeng; He, Jie; Hu, Shaoyan

Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation [Turk J Hematol]

Turk J Hematol. 2020; 37(4): 296-298 | DOI: 10.4274/tjh.galenos.2020.2020.0213

Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation

Junjie Fan, Jing Ling, Huifeng Zhou, Jie He, Shaoyan Hu
Children’s Hospital of Soochow University, Department of Hematology and Oncology, Jiangsu, China

Keywords: Type 2B von Willebrand disease, VWF gene, Thrombocytopenia

Olgu Sunumu: Ağır Trombositopenili Bir Bebekte De Novo p.Val1316Met Mutasyonuna Bağlı Von Willebrand Hastalığı Tip 2B Tanısı

Junjie Fan, Jing Ling, Huifeng Zhou, Jie He, Shaoyan Hu
Children’s Hospital of Soochow University, Department of Hematology and Oncology, Jiangsu, China

Anahtar Kelimeler: Von Willebrand Hastalığı Tip2B, VWF geni, Trombositopeni

Corresponding Author: Shaoyan Hu, Saint Kitts and Nevis
Manuscript Language: English

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