Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain including cerebellar hypoplasia and cerebellar v...

Descripción completa

Detalles Bibliográficos
Autores principales: Spahiu, Lidvana, Sayer, John A, Behluli, Emir, Liehr, Thomas, Temaj, Gazmend
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196526/
https://www.ncbi.nlm.nih.gov/pubmed/37224330
http://dx.doi.org/10.12688/f1000research.109628.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196526/
https://www.ncbi.nlm.nih.gov/pubmed/37224330
http://dx.doi.org/10.12688/f1000research.109628.2

Ejemplares similares