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A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs
Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis. The histopathological fi...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147468/ https://www.ncbi.nlm.nih.gov/pubmed/30235266 http://dx.doi.org/10.1371/journal.pone.0204073 |