史密斯-勒米-奥皮茨综合征的产前诊断
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
作者信息
McGaughran J M, Clayton P T, Mills K A, Rimmer S, Moore L, Donnai D
机构信息
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
出版信息
Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306.
PMID:7778587
Abstract
An abnormality in cholesterol synthesis was described recently in the Smith-Lemli-Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes.
摘要
最近在史密斯-勒米-奥皮茨（SLO）综合征中发现了胆固醇合成异常。在此，我们描述了这一发现的应用如何实现了准确的产前诊断。我们还讨论了该检测在检测杂合子方面的可能用途。
Zotero 插件