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PubMed · 108645

Albinism.

J François
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Abstract

There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism). There are three forms of sex-linked albinism: ocular albinism, which is intermediary sex-linked, François-De Rouck syndrome and Ziprkowski syndrome, which show a generalized albinism and are recessive sex-linked. There are two principal forms of cutaneous albinism, one without deafness and the other with deafness (Waardenburg-Klein syndrome).

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AlbinismChediak-Higashi SyndromeDeafnessFemaleGenes, RecessiveHumansMaleMonophenol MonooxygenasePedigreeSyndromeJournal ArticleReview

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J François. 1979. Albinism.. https://doi.org/10.1159/000308802

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PubMed1992

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