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- ... the condition. 7-dehydrocholesterol reductase deficiency RSH Syndrome SLO syndrome SLOS Genetic Testing Registry: Smith-Lemli-Opitz syndrome Smith- ... Disorders (NORD) ClinicalTrials.gov SMITH-LEMLI-OPITZ SYNDROME; SLOS PubMed Bianconi SE, Cross JL, Wassif CA, Porter ...
- ... mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Hum Mutat. 2005 Jul;26(1):59. doi: ...