Jezela-Stanek, A <br/><br/>
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.  [electronic resource] 

 -  Clinical genetics  Jan 2006 
 - 77-85 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0009-9163 
<br/><br/><label>Standard No.: </label>10.1111/j.1399-0004.2006.00551.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amniotic Fluid--metabolism<br/>Chorionic Villi Sampling<br/>Dehydrocholesterols--metabolism<br/>Estriol--metabolism<br/>Family<br/>Female<br/>Gas Chromatography-Mass Spectrometry<br/>Genotype<br/>Humans<br/>Oxidoreductases Acting on CH-CH Group Donors--genetics<br/>Phenotype<br/>Pregnancy<br/>Pregnanetriol--metabolism<br/>Prenatal Diagnosis<br/>Smith-Lemli-Opitz Syndrome--diagnosis