DNMT3A

Publications

Tatton-Brown K, et al. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. Am J Hum Genet. 2017;100(5):725-736. PMID: 28475857.

Tatton-Brown K, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014;46(4):385-8. PMID: 24614070.

Shen W, et al. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.  Am J Med Genet A. 2017;173(11):3022-3028. PMID: 28941052.

Lemire G, et al. A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. Am J Med Genet A. 2017 Apr 27. [Epub ahead of print] PMID: 28449304.

Hollink IHIM, et al. Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. J Med Genet. 2017;54(12):805-808. PMID: 28432085.

Kosaki R, et al. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Am J Med Genet A. 2017;173(1):250-253. PMID: 27991732.

Xin B, et al. Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet. 2017;91(4):623-628. PMID: 27701732.

Okamoto N, et al. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Am J Med Genet A. 2016;170A(5):1339-1342. PMID: 26866722.