ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated g...

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Detalles Bibliográficos
Autores principales: Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286/
https://www.ncbi.nlm.nih.gov/pubmed/30269812
http://dx.doi.org/10.1016/j.ajhg.2018.08.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286/
https://www.ncbi.nlm.nih.gov/pubmed/30269812
http://dx.doi.org/10.1016/j.ajhg.2018.08.015

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