Cargando…
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...
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 |
Ejemplares similares
-
Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn
por: Hyland, Rachael M., et al.
Publicado: (2021) -
A liquid-like organelle at the root of motile ciliopathy
por: Huizar, Ryan L, et al.
Publicado: (2018) -
Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies
por: Rabiasz, Alicja, et al.
Publicado: (2023) -
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder
por: Praveen, Kavita, et al.
Publicado: (2015) -
Biallelic variants in
CEP164
cause a motile ciliopathy‐like syndrome
por: Devlin, Laura A., et al.
Publicado: (2022)