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白化病。

Albinism.

作者信息

François J

出版信息

Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802.

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).

摘要

眼皮肤白化病有七种类型,均为常染色体隐性遗传:三种是酪氨酸酶阴性(完全性眼皮肤白化病、阿米什白化病、赫尔曼斯基-普德拉克综合征),四种是酪氨酸酶阳性(不完全性眼皮肤白化病、切迪阿克-希加什综合征、克罗斯综合征、伯格马白化病)。性连锁白化病有三种类型:中间性连锁的眼白化病、弗朗索瓦-德鲁克综合征和齐普科夫斯基综合征,后者表现为全身性白化病,为隐性性连锁。皮肤白化病有两种主要类型,一种无耳聋症状,另一种伴有耳聋(瓦尔登堡-克莱因综合征)。

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