Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precu...

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Detalles Bibliográficos
Autores principales: Thurm, Audrey, Tierney, Elaine, Farmer, Cristan, Albert, Phebe, Joseph, Lisa, Swedo, Susan, Bianconi, Simona, Bukelis, Irena, Wheeler, Courtney, Sarphare, Geeta, Lanham, Diane, Wassif, Christopher A., Porter, Forbes D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822234/
https://www.ncbi.nlm.nih.gov/pubmed/27053961
http://dx.doi.org/10.1186/s11689-016-9145-x

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