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  • Očesni albinizem pri otroku = Child with ocular albinism
    Besednjak-Kocjančič, Lilijana ...
    Albinism is relatively rare disorder with reduction or absence of melanin in the skin, hair and/or eyes. It is the consequence of the mutation of one or more genes associated with the synthesis of ... melanin. Clinically it is divided into oculocutaneus (OCA) and ocular (OA) albinism. Clinical diagnosis of albinism type is difficult, because of the observed range of phenotypic variation. The article presents a 4 years old male with clinical phenotype suggestive of ocular albinism type-1 (OA 1) - an x linked human genetic disorder. With genetic analysis we didn't confirm it. Clinical characteristics, etiology and diagnosis of albinism are presented.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 9, [št.] 1, 2002, str. 17-20)
    Vrsta gradiva - članek, sestavni del
    Leto - 2002
    Jezik - slovenski
    COBISS.SI-ID - 15097817

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