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A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and earl...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7690422/ https://ncbi.nlm.nih.gov/pubmed/33105651 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111240 |
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