Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
About this item
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Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance
1
,
2
,
3
,
4
. Other clinical and biological features include
acanthosis nigricans
, hyperandroge...
Alternative Titles
Full title
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
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TN_cdi_proquest_miscellaneous_71050937
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71050937
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng585
