A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected....

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Detalles Bibliográficos
Autores principales: Tuncel, Gulten, Kaymakamzade, Bahar, Engindereli, Yeliz, Temel, Sehime G., Ergoren, Mahmut Cerkez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234327/
https://www.ncbi.nlm.nih.gov/pubmed/34205586
http://dx.doi.org/10.3390/genes12060945

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234327/
https://www.ncbi.nlm.nih.gov/pubmed/34205586
http://dx.doi.org/10.3390/genes12060945

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