Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. Mutations in the gene for Δ7-sterol reductase (DHCR7), which catalyzes the...

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Autors principals: Witsch-Baumgartner, M., Fitzky, B. U., Ogorelkova, M., Kraft, H. G., Moebius, F. F., Glossmann, H., Seedorf, U., Gillessen-Kaesbach, G., Hoffmann, G. F., Clayton, P., Kelley, R. I., Utermann, G.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2000
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288092/
https://ncbi.nlm.nih.gov/pubmed/10677299
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