[A case of Béguéz César-Steinbrinck-Chediak-Higashi syndrome (incomplete albinismus universalis, with ocular albinoidism, hepatosplenomegaly, atypical leukocyte inclusions) with grave disorders in the electroretinogram].
D000417:Albinism; D003594:Cytoplasmic Granules; D004596:Electroretinography; D005128:Eye Diseases; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D007223:Infant; D007962:Leukocytes; D012160:Retina; D013163:Splenomegaly
Un caso di sindrome di Béguéz César-Steinbrinck-Chediak-Higashi (albinismo universale incompleto con albinoidismo oculare, epatosplenomegalia, inclusioni leucocitarie atipiche) con grave compromissione dell'elettroretinogramma.