De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
作者信息
Aradhya Swaroop, Smaoui Nizar, Marble Michael, Lacassie Yves
出版信息
Am J Med Genet A. 2011 Feb;155A(2):442-4. doi: 10.1002/ajmg.a.33814. Epub 2011 Jan 13.
PMID:21271670
Abstract
摘要
Zotero 插件