Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in thre...
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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England: BMJ Publishing Group Ltd
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Contents
E ditor -Alström syndrome is a rare, autosomal recessive disorder, which was first described by Alströmet al 1 in 1959 as a combination of atypical retinal degeneration, obesity, diabetes mellitus, and neurogenic deafness. Since this first report, further features of the syndrome have been described, including hypertriglyceridaemia, 2 3 hepatic d...
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Full title
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734624
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734624
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.37.7.e8
