690 KB17 KB199220252003Centurión, Santiago A.Schwartz, Robert A.številka:1letnik:12str. 32-36ISSN:1318-4458COBISSID:16238553URN:URN:NBN:SI:doc-PR88FX5RenSlovene Welding SocietyActa dermatovenerologica Alpina, Pannonica et AdriaticaAlbinism, OculocutaneousAlbinizem okulokutaniAngelman SyndromeAngelmanov sindromChediak-Hagashijev sindromChediak-Higashi SyndromedermatologijaDiagnosisdiagnostikaetiologijakožne bolezniPathologyPrader-Willi SyndromePrader-Willijev sindromTherapyOculocutaneous albinism type 2|Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. The etiology, clinical manifestations, diagnosis, and management are discussedTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaZdruženje slovenskih dermatovenerologov