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...

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Detalles Bibliográficos
Autores principales: Dillard, Kati J., Hytönen, Marjo K., Fischer, Daniel, Tanhuanpää, Kimmo, Lehti, Mari S., Vainio-Siukola, Katri, Sironen, Anu, Anttila, Marjukka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
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

Internet

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

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