Genetics of pigmentary disorders

被引：92

作者：

Tomita, Y ^{[1
]}

Suzuki, T ^{[1
]}

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Showa Ku, Nagoya, Aichi 4668550, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2004年 / 131C卷 / 01期

关键词：

albinism; Chediak-Higashi syndrome; dyschromatosis; Griscelli syndrome; Hermansky-Pudlak syndrome; piebaldism; Waardenburg syndrome;

D O I：

10.1002/ajmg.c.30036

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). These disorders are presented and their gene mutations and pathogenesis are discussed. (C) 2004 Wiley-Liss, Inc.

引用

页码：75 / 81

页数：7

共 38 条

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