De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
作者信息
Waye John S, Eng Barry, Potter Murray A, Nowaczyk Małgorzata J M, McFadden Deborah, Langlois Sylvie
机构信息
1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada.
出版信息
Am J Med Genet A. 2007 Aug 1;143A(15):1799-801. doi: 10.1002/ajmg.a.31802.
PMID:17595012
Abstract
摘要
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