Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene...

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Detalhes bibliográficos
Principais autores: He, Miao, Kratz, Lisa E., Michel, Joshua J., Vallejo, Abbe N., Ferris, Laura, Kelley, Richard I., Hoover, Jacqueline J., Jukic, Drazen, Gibson, K. Michael, Wolfe, Lynne A., Ramachandran, Dhanya, Zwick, Michael E., Vockley, Jerry
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049385/
https://ncbi.nlm.nih.gov/pubmed/21285510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI42650
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