Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13.
An-Sofie SchelpeChristelle OrlandoBogac ErcigChloë GeeromsInge PareynNele VandeputteLeydi Carolina Velásquez PereiraElien RooseKarel FostierGerry A F NicolaesHans DeckmynSimon F De MeyerKaren VanhoorelbekeKristin JochmansPublished in: European journal of haematology (2018)
The ADAMTS13 mutations result in a severe ADAMTS13 deficiency explaining the patient's phenotype.