ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 to a range of other disorders including com...
Alternative Titles
Full title
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6327082
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6327082
Other Identifiers
ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-018-1714-x
