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    • SMITH-LEMLI-OPITZ SYNDROME & IMPAIRED CHOLESTEROL METABOLISM 

      Salamat, Bita (2018-03-14)
      INTRODUCTION Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to mutations in the DHCR7 gene, impairing 7-dehydrocholesterol reductase (DHCR7) and cholesterol synthesis. Patients typically present ...