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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690422/ https://www.ncbi.nlm.nih.gov/pubmed/33105651 http://dx.doi.org/10.3390/genes11111240 |