<i>DHCR7</i> mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
Elżbieta Ciara(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), Małgorzata Piotrowicz(Polish Mother’s Memorial Hospital Research Institute), Gerd Utermann(Innsbruck Medical University), Martina Witsch‐Baumgartner(Innsbruck Medical University), MJM Nowaczyk(McMaster University), JS Waye(McMaster University), Ewa Popowska(Instytut Matki i Dziecka), E Małunowicz(Children's Memorial Health Institute), Aleksandra Jezela‐Stanek
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