Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

Medicine, Obstetrics, Pediatrics +9

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile et al. · The American Journal of Human Genetics · 1998 · 424 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Barbara U. Fitzky, Martina Witsch‐Baumgartner, Martin Erdel et al. · Proceedings of the National Academy of Sciences · 1998 · 388 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9