OR063 A case of recurrent splenic lesions in a patient with Vici syndrome

Vici Syndrome is a rare disorder characterized by callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. The condition is due to recessive mutations in the EPG5 gene on chromosome 18q12.3.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research