3 Result(s)
within
Katrina Tatton-Brown
English
Biomedicine, general
Gene Function
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Article
Correction: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Nat. Genet. 46, 385–388 (2014); published online 9 March 2014; corrected after print 25 April 2014 In the version of this article initially published, the protein alterations for three cases (COG1770, COG1670 ...
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Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Nazneen Rahman, Katrina Tatton-Brown and colleagues identify de novo mutations in the DNA methyltransferase gene DNMT3A as the cause of a new overgrowth syndrome. Shared features of this syndrome include a distin...
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Article
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
17q11 microdeletions that encompass NF1 cause 5%–10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that ...
