2011•China Medical HeraldRequires access

The research on genes of ocular albinism and clinical manifestations

Zhang Zhongshou

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Abstract

Albinism is a single-gene recessive genetic disease.Ocular albinism can be divided into 4 types,clinical manifestations,mainly whole body pigment deficiency,according to their pigment lack of parts and other system abnormalities can be divided into the whites of the disease,ocular albinism,and albinism-related syndrome.Albinism occurs with 12 gene mutation.In this paper,the clinical manifestation of the vision,skin,and the various aspects of psychological type ocular albinism progress in genetic research were reviewed.

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What this paper is about

Albinism is a single-gene recessive genetic disease.Ocular albinism can be divided into 4 types,clinical manifestations,mainly whole body pigment deficiency,according to their pigment lack of parts and other system abnormalities can be divided into the whites of the disease,ocular albinism,and albinism-related syndrome.Albinism occurs with 12 gene mutation.In this paper,the clinical manifestation of the vision,skin,and the various aspects of psychological type ocular albinism progress in genetic research were reviewed.

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Available abstract

Albinism is a single-gene recessive genetic disease.Ocular albinism can be divided into 4 types,clinical manifestations,mainly whole body pigment deficiency,according to their pigment lack of parts and other system abnormalities can be divided into the whites of the disease,ocular albinism,and albinism-related syndrome.Albinism occurs with 12 gene mutation.In this paper,the clinical manifestation of the vision,skin,and the various aspects of psychological type ocular albinism progress in genetic research were reviewed.

Key concepts: Albinism, Medicine, Disease, Inherited disease, Genetics, Mutation, Gene, Pathology

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