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Molecular genetics of central nervous system malformations.

作者信息

Forestier François

机构信息

Laboratoire Marcel Mérieux, 17/19 Avenue Tony Garnier, BP 7322, 69357 Lyon Cedex 07, France.

出版信息

Childs Nerv Syst. 2003 Aug;19(7-8):440-3. doi: 10.1007/s00381-003-0785-2. Epub 2003 Jun 19.

DOI:10.1007/s00381-003-0785-2
PMID:12820004
Abstract

INTRODUCTION

Each of the processes involved in the development of the central nervous system is under genetic control and some mutations are responsible for severe malformations. For example, holoprosencephaly is associated with HPE genes, hydrocephalus with L1-CAM and lissencephaly with LIS-1.

DISCUSSION

Molecular genetics has brought new insights into the etiology and pathogenesis of nervous system malformations and has provided new tools for accurate prenatal diagnosis.

摘要

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