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Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation

Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found to be a relatively common inborn error of metabolism. The underlying defect is absent or deficient activity of 7-dehydrocholest...

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Detalhes bibliográficos
Main Authors: Nowaczyk, M J, Whelan, D T, Heshka, T W, Hill, R E
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1230468/
https://ncbi.nlm.nih.gov/pubmed/10439827
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