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

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...

Full description

Bibliographic Details
Main Authors: Babunageswararao Kanuri, Vincent Fong, Sithara Raju Ponny, Keri A. Tallman, Sriganesh Ramachandra Rao, Ned Porter, Steven J. Fliesler, Shailendra B. Patel
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Journal of Lipid Research
Subjects:
dysmorphology
cholesterol synthesis
7-dehydrocholesterol
Smith-Lemli-Opitz syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520437046

Internet

http://www.sciencedirect.com/science/article/pii/S0022227520437046

Similar Items