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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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Detalles Bibliográficos
Autores principales: Grochowsky, Angela, Gunay-Aygun, Meral
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864414/
https://www.ncbi.nlm.nih.gov/pubmed/31763176
http://dx.doi.org/10.3233/TRD-190033