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7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol synthesis. Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developmental malformations. Among them, renal agenesis or hypoplasia, decreased innervation of the gut, and ptosis are consiste...

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Detalles Bibliográficos
Autores principales: Gou-Fàbregas, Myriam, Macià, Anna, Anerillas, Carlos, Vaquero, Marta, Jové, Mariona, Jain, Sanjay, Ribera, Joan, Encinas, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917867/
https://www.ncbi.nlm.nih.gov/pubmed/27334845
http://dx.doi.org/10.1038/srep28534