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
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- 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.
- KMID: 2373790
- DOI: http://doi.org/10.3904/kjim.2016.31.1.188
Abstract
- No abstract available.
MeSH Terms
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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
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