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

Turk J Haematol. 2020 Nov 19;37(4):296-298. doi: 10.4274/tjh.galenos.2020.2020.0213. Epub 2020 Jul 3.
No abstract available

Keywords: Thrombocytopenia; Type 2B von Willebrand disease; VWF gene.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution*
  • Blood Coagulation
  • Blood Coagulation Tests
  • Codon*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant, Newborn
  • Mutation*
  • Thrombocytopenia / blood
  • Thrombocytopenia / diagnosis*
  • von Willebrand Disease, Type 2 / blood
  • von Willebrand Disease, Type 2 / diagnosis*
  • von Willebrand Disease, Type 2 / genetics*
  • von Willebrand Factor / genetics*

Substances

  • Codon
  • von Willebrand Factor