Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

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8. Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis
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11. Intracellular Cholesterol Dynamics in Steroidogenic Cells
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12. Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann–Pick type C disease and Smith–Lemli–Opitz syndrome using light sheet microscopy
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16. Smith‐Lemli‐Opitz syndrome: a review, case report and dental implications
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17. Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome
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20. Edematous polydactyly in Smith‐Lemli–Opitz syndrome Type II
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22. The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
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23. Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome
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24. Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
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34. High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey
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36. DHCR7 mutations causing the Smith—Lemli—Opitz syndrome
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38. Smith‐Lemli‐Opitz Syndrome
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41. Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients
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47. The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation
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48. Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient
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55. Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes
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58. Diagnóstico pré-natal de Síndrome de Smith-Lemli-Opitz
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