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Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype–phenotype correlation has been suggested without assessment of ALMS1 expression. ME...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5511801/ https://ncbi.nlm.nih.gov/pubmed/28717663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.296 |
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