Rubinstein–Taybi syndrome: clinical and molecular overview
Rubinstein–Taybi syndrome: clinical and molecular overview
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Publisher
Cambridge, UK: Cambridge University Press
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Language
English
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Publisher
Cambridge, UK: Cambridge University Press
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Contents
Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. The syndrome is rare, with a frequency of approximately one affected individual in 100 000 newborns. Mutations in two genes – CREBBP and EP300 – have been identified to cause the syndrome. These two genes show strong homology and enc...
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Full title
Rubinstein–Taybi syndrome: clinical and molecular overview
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TN_cdi_proquest_miscellaneous_68408201
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68408201
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ISSN
1462-3994
E-ISSN
1462-3994
DOI
10.1017/S1462399407000415
