PAX6 and congenital eye malformations

被引：58

作者：

Hanson, IM ^{[1
]}

机构：

[1] Univ Edinburgh, Western Gen Hosp, Mol Med Ctr, Med Genet Sect, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

PEDIATRIC RESEARCH | 2003年 / 54卷 / 06期

关键词：

D O I：

10.1203/01.PDR.0000096455.00657.98

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The PAX6 gene is a paradigm for our understanding of the molecular genetics of mammalian eye development. Twelve years after its identification it is one of the most intensively studied genes, both in terms of its diverse and complex functions during oculogenesis and its role in an ever-increasing variety of human congenital eye malformations. The PAX6 field has benefited greatly from the continued input of clinicians, human geneticists and developmental biologists. This review summarizes the latest data on the PAX6 mutation spectrum and recent insights into Pax6 function from the mouse.

引用

页码：791 / 796

页数：6

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