Literature DB >> 108645

Albinism.

J François.   

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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Year:  1979        PMID: 108645     DOI: 10.1159/000308802

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN: 0030-3755            Impact factor:   3.250


  1 in total

1.  Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Authors:  W R Fagadau; M H Heinemann; E Cotlier
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

  1 in total

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