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Training NCCHD Japan

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Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome

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By Atsushi Sakamoto, Development Tokyo Japan, Toru Uchiyama, Training NCCHD Japan
| Wiley Online Library Verified
The deletion region of 22q11.2 deletion syndrome (22q11.2DS) contains a gene encoding glycoprotein Ibβ (GPIbβ), which is required to express the GPIb/IX/V complex on the platelet surface. Therefore, patients with 22q11.2DS may have congenital platelet disorders. However, information is limited on platelets and bleeding symptoms.
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