Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and neurological, behavioral, and cognitive defects, wit...

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Detalhes bibliográficos

Principais autores:	Babunageswararao Kanuri, Vincent Fong, Sithara Raju Ponny, Keri A. Tallman, Sriganesh Ramachandra Rao, Ned Porter, Steven J. Fliesler, Shailendra B. Patel
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2021-01-01
coleção:	Journal of Lipid Research
Assuntos:	dysmorphology cholesterol synthesis 7-dehydrocholesterol Smith-Lemli-Opitz syndrome
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S0022227520437046
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