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Brain Magnetic Resonance Imaging Findings in Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7-dehydrocholesterol reductase (DHCR7). There are only a few studies describing the brain imaging findings in SLOS. This study examines the prevalence of m...

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Detalhes bibliográficos
Main Authors: Lee, Ryan W.Y., Conley, Sandra K., Gropman, Andrea, Porter, Forbes D., Baker, Eva H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3787998/
https://ncbi.nlm.nih.gov/pubmed/23918729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36096
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