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先天性眼缺陷的遗传和分子基础。

The genetic and molecular basis of congenital eye defects.

作者信息

Graw Jochen

机构信息

GSF-National Research Center for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany.

出版信息

Nat Rev Genet. 2003 Nov;4(11):876-88. doi: 10.1038/nrg1202.

DOI:10.1038/nrg1202
PMID:14634635
Abstract

The mature eye is a complex organ that develops through a highly organized process during embryogenesis. Alterations in its genetic programming can lead to severe disorders that become apparent at birth or shortly afterwards; for example, one-half of the cases of blindness in children have a genetic cause. This review outlines the genetic basis of eye development, as determined by mutation analysis in patients and in model organisms. A better understanding of how this intricate organ develops at the genetic and cellular level is central to our understanding of the pathologies that afflict it.

摘要

成熟的眼睛是一个复杂的器官,在胚胎发育过程中通过高度有序的过程形成。其基因程序的改变可导致严重疾病,这些疾病在出生时或出生后不久就会显现出来;例如,儿童失明病例中有一半是由遗传因素引起的。本综述概述了眼睛发育的遗传基础,这是通过对患者和模式生物的突变分析确定的。更好地了解这个复杂器官在基因和细胞水平上的发育过程,对于我们理解影响它的病理学至关重要。

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