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Clinical characteristics of individual organ system disease in non-motile ciliopathies
Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndromes, and Jeune chondrodysplasia and other skeletal...
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| Publicat a: | Transl Sci Rare Dis |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
IOS Press
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6864414/ https://ncbi.nlm.nih.gov/pubmed/31763176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-190033 |
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