Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies
Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), J Jezuita(Medical Genetics Center), M Czerwiecka(Medical Genetics Center), Elżbieta Ciara(Children's Memorial Health Institute), B. Goryluk‐Kozakiewicz(Children's Memorial Health Institute), EM Małunowicz(Children's Memorial Health Institute), Ewa Popowska(Instytut Matki i Dziecka), MJM Nowaczyk(McMaster University), K Spodar(Medical Genetics Center)
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