An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without p...

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Detalles Bibliográficos
Autores principales: Stayner, C., Poole, C. A., McGlashan, S. R., Pilanthananond, M., Brauning, R., Markie, D., Lett, B., Slobbe, L., Chae, A., Johnstone, A. C., Jensen, C. G., McEwan, J. C., Dittmer, K., Parker, K., Wiles, A., Blackburne, W., Leichter, A., Leask, M., Pinnapureddy, A., Jennings, M., Horsfield, J. A., Walker, R. J., Eccles, M. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431643/
https://www.ncbi.nlm.nih.gov/pubmed/28487520
http://dx.doi.org/10.1038/s41598-017-01519-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431643/
https://www.ncbi.nlm.nih.gov/pubmed/28487520
http://dx.doi.org/10.1038/s41598-017-01519-4

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