Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

作者信息

Szczałuba Krzysztof, Mierzewska Hanna, Obersztyn Ewa, Tryfon Jolanta, Bekiesińska-Figatowska Monika, Szczepanik Elzbieta, Chrzanowska Krystyna, Bocian Ewa

机构信息

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A St.,01-211 Warsaw, Poland.

出版信息

J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2.

DOI:10.1007/s13353-012-0084-2

PMID:22293976

Abstract

摘要

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New trends in neuronal migration disorders.神经元迁移障碍的新趋势。

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Schizencephaly: heterogeneous etiologies in a population of 4 million California births.脑裂畸形：加利福尼亚州400万例出生人口中的病因异质性。

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