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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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| Pubblicato in: | Genes (Basel) |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8234327/ https://ncbi.nlm.nih.gov/pubmed/34205586 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060945 |
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