Avtor/Urednik		Centurion, Santiago A; Schwartz, Robert A
Naslov		Oculocutaneous albinism type 2
Tip		članek
Vir		Acta Dermatovenerol Alp Pannon Adriat
Vol. in št.		Letnik 12, št. 1
Leto izdaje		2003
Obseg		str. 32-6
Jezik		eng
Abstrakt		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 discussed.
Deskriptorji		ALBINISM, OCULOCUTANEOUS CHEDIAK-HIGASHI SYNDROME PRADER-WILLI SYNDROME ANGELMAN SYNDROME