Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

被引：0

作者：

Pia Ostergaard

Michael A Simpson

Fiona C Connell

Colin G Steward

Glen Brice

Wesley J Woollard

Dimitra Dafou

Tatjana Kilo

Sarah Smithson

Peter Lunt

Victoria A Murday

Shirley Hodgson

Russell Keenan

Daniela T Pilz

Ines Martinez-Corral

Taija Makinen

Peter S Mortimer

Steve Jeffery

Richard C Trembath

Sahar Mansour

机构：

[1] Medical Genetics Unit,Division of Genetics and Molecular Medicine

[2] Biomedical Sciences,Department of Clinical Genetics

[3] St. George's University of London,Department of Clinical Genetics

[4] King's College London School of Medicine,Department of Paediatric Haematology

[5] Guy's Hospital,Department of Cardiac and Vascular Sciences

[6] Clinical Genetics,undefined

[7] Guy's and St. Thomas' National Health Service (NHS) Foundation Trust,undefined

[8] Guy's Hospital,undefined

[9] Bone Marrow Transplant Unit,undefined

[10] Royal Hospital for Children,undefined

[11] South West Thames Regional Genetics Service,undefined

[12] St. George's University of London,undefined

[13] Haematology Unit,undefined

[14] The Children's Hospital at Westmead,undefined

[15] St Michael's Hospital,undefined

[16] Yorkhill Hospital,undefined

[17] Alderhey Children's Hospital,undefined

[18] Institute of Medical Genetics,undefined

[19] University Hospital of Wales,undefined

[20] Lymphatic Development Laboratory,undefined

[21] Cancer Research UK London Research Institute,undefined

[22] St. George's University of London,undefined

来源：

Nature Genetics | 2011年 / 43卷

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学科分类号：

摘要：

Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.

引用

页码：929 / 931

页数：2

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