Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methylt...
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
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Publisher
Washington, DC: Endocrine Society
Journal title
Language
English
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Publisher
Washington, DC: Endocrine Society
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Abstract
Context
Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in enhancer of zeste homolog 2 (EZH2), a histone methyltransferase responsible for histone H3 at lysine 27 (H3K27) trimethylation. However, no early truncatin...
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Full title
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
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TN_cdi_swepub_primary_oai_swepub_ki_se_491857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_491857
Other Identifiers
ISSN
0021-972X,1945-7197
E-ISSN
1945-7197
DOI
10.1210/jc.2017-01948
