Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and eye, as well as other organ systems such as the...

Descripción completa

Detalles Bibliográficos
Autores principales: Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099168/
https://www.ncbi.nlm.nih.gov/pubmed/36273371
http://dx.doi.org/10.1111/cge.14251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099168/
https://www.ncbi.nlm.nih.gov/pubmed/36273371
http://dx.doi.org/10.1111/cge.14251

Ejemplares similares