Korean J Intern Med.  2016 Jan;31(1):188-190. 10.3904/kjim.2016.31.1.188.

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

Affiliations
  • 1Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea. jhmoon@knu.ac.kr
  • 2Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Abstract

No abstract available.

Keyword

Myelodysplastic syndromes; GATA2 gene mutation; Emberger syndrome

MeSH Terms

DNA Mutational Analysis
Female
*Frameshift Mutation
GATA2 Transcription Factor/*genetics
Genetic Predisposition to Disease
Hearing Loss, Sensorineural/diagnosis/genetics
Humans
Lymphedema/diagnosis/*genetics
Myelodysplastic Syndromes/diagnosis/*genetics
Phenotype
Republic of Korea
Young Adult
GATA2 Transcription Factor
Full Text Links
  • KJIM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr