ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits

Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant...

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Detalles Bibliográficos
Autor principal: Hearn, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327082/
https://www.ncbi.nlm.nih.gov/pubmed/30421101
http://dx.doi.org/10.1007/s00109-018-1714-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327082/
https://www.ncbi.nlm.nih.gov/pubmed/30421101
http://dx.doi.org/10.1007/s00109-018-1714-x

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