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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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| 出版年: | Genes (Basel) |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2020
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| 主題: | |
| オンライン･アクセス: | 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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