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

Nature Genetics

Volumn 46, Issue 4, 2014, Pages 385-388

  Tatton Brown, Katrina ^a,b,c   Seal, Sheila ^a   Ruark, Elise ^a   Harmer, Jenny ^a   Ramsay, Emma ^a   Del Vecchio Duarte, Silvana ^a   Zachariou, Anna ^a   Hanks, Sandra ^a   O'Brien, Eleanor ^a   Aksglaede, Lise ^d   Baralle, Diana ^e   Dabir, Tabib ^f   Gener, Blanca ^g   Goudie, David ^h   Homfray, Tessa ^c   Kumar, Ajith ⁱ   Pilz, Daniela T ^j   Selicorni, Angelo ^k   Temple, I Karen ^e   Van Maldergem, Lionel ^l   Yachelevich, Naomi ^m   Van Montfort, Robert ^a   Rahman, Nazneen ^a,b   more..

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b ROYAL MARSDEN HOSPITAL   (United Kingdom)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d Mental Health Services CPH   (Denmark)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f BELFAST CITY HOSPITAL   (United Kingdom)

^g BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^h UNIVERSITY OF DUNDEE   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^k UNIVERSITY OF MILANO BICOCCA   (Italy)

^l UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^m NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3A; HISTONE;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; DNMT3A GENE; EMBRYO DEVELOPMENT; EPIGENETICS; EXOME; FACE DYSMORPHIA; GENE; GENE MUTATION; GENE SEQUENCE; GROWTH DISORDER; HEMATOLOGIC MALIGNANCY; INTELLECTUAL IMPAIRMENT; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SOMATIC MUTATION; UNITED KINGDOM;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; EXOME; GENE COMPONENTS; GREAT BRITAIN; GROWTH DISORDERS; HISTONES; HUMANS; INTELLECTUAL DISABILITY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84898057327     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2917     Document Type: Article

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