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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Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Chen, Jian‐Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2017
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Original Articles
Online-ссылка: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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