A splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation.

Platelet type bleeding disorder-18 (BDPLT18) caused by mutations of Ras guanyl releasing protein 2 () is a relatively rare, new autosomal recessive disorder. Here, we reported a splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation. The patient, an 8-year-old girl, suffered from anemia due to frequently severe recurrent epistaxis, requiring regular blood transfusions every 2-3 months.