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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Detalles Bibliográficos
Autores principales: Chen, Jian‐Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511801/
https://www.ncbi.nlm.nih.gov/pubmed/28717663
http://dx.doi.org/10.1002/mgg3.296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511801/
https://www.ncbi.nlm.nih.gov/pubmed/28717663
http://dx.doi.org/10.1002/mgg3.296

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