Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation

Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. The precise pathogenic mechanisms remain undetermined. Herein it is reported for the first time that...

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Detalles Bibliográficos
Autores principales: Shim, Joon W., Territo, Paul R., Simpson, Stefanie, Watson, John C., Jiang, Lei, Riley, Amanda A., McCarthy, Brian, Persohn, Scott, Fulkerson, Daniel, Blazer-Yost, Bonnie L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355840/
https://www.ncbi.nlm.nih.gov/pubmed/30705305
http://dx.doi.org/10.1038/s41598-018-37620-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355840/
https://www.ncbi.nlm.nih.gov/pubmed/30705305
http://dx.doi.org/10.1038/s41598-018-37620-5

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