首例伴有新型GATA2基因突变的韩国恩贝格尔综合征（原发性淋巴水肿伴骨髓发育异常）病例。 - Suppr

First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.

作者信息

Seo Sang Kyung, Kim Kyu Yeun, Han Seo Ae, Yoon Joon Seok, Shin Sang-Yong, Sohn Sang Kyun, Moon Joon Ho

机构信息

Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.

Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Korean J Intern Med. 2016 Jan;31(1):188-90. doi: 10.3904/kjim.2016.31.1.188. Epub 2015 Dec 28.

DOI:10.3904/kjim.2016.31.1.188

PMID:26767875

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4712426/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c292/4712426/d747778cc508/kjim-31-1-188f1.jpg

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本文引用的文献

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.

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

Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13.

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445.

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First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.

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