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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I publikationen:Sci Rep
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6355840/
https://ncbi.nlm.nih.gov/pubmed/30705305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37620-5
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