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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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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2017
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| Témata: | |
| On-line přístup: | 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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