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

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

Abstract 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,...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: C. Stayner, C. A. Poole, S. R. McGlashan, M. Pilanthananond, R. Brauning, D. Markie, B. Lett, L. Slobbe, A. Chae, A. C. Johnstone, C. G. Jensen, J. C. McEwan, K. Dittmer, K. Parker, A. Wiles, W. Blackburne, A. Leichter, M. Leask, A. Pinnapureddy, M. Jennings, J. A. Horsfield, R. J. Walker, M. R. Eccles
Format: article
Langue:EN
Publié: Nature Portfolio 2017
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/edcafb5f13094ac2bfab71d2db069f8d
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doaj.org/article/edcafb5f13094ac2bfab71d2db069f8d

Documents similaires