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Items: 3

1.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium, van Montfort R, Rahman N.

Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Erratum in: Nat Genet. 2014 Jun;46(6):657.

2.

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

Okamoto N, Toribe Y, Shimojima K, Yamamoto T.

Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11.

PMID:
26866722
3.

Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H.

Clin Genet. 2017 Apr;91(4):623-628. doi: 10.1111/cge.12878. Epub 2017 Jan 22.

PMID:
27701732

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