Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Innsbruck, Austria.
Martina
M
Witsch-Baumgartner
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Innsbruck, Austria.
Barbara
B
Lanthaler
D006801:Humans; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase