期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 12, 页码 1313-1316出版社
WILEY
DOI: 10.1002/ajmg.a.31767
关键词
schizencephaly; EMX2; congenital brain malformation
资金
- NICHD NIH HHS [F32HD048035] Funding Source: Medline
- NINDS NIH HHS [R37NS35129-05] Funding Source: Medline
Schizencephaly is a brain malformation disorder characterized by one or more full-thickness Clefts through the cerebral cortex. While initial reports suggested that EMX2 imitations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause Of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we sequenced EMX2 in a cohort of 84 affected probands. Nopathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly. (c) 2007 Wiley-Liss, Inc.
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