First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.
10.3904/kjim.2016.31.1.188
- Author:
Sang Kyung SEO
1
;
Kyu Yeun KIM
;
Seo Ae HAN
;
Joon Seok YOON
;
Sang Yong SHIN
;
Sang Kyun SOHN
;
Joon Ho MOON
Author Information
1. Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea. jhmoon@knu.ac.kr
- Publication Type:Case Reports ; Letter
- Keywords:
Myelodysplastic syndromes;
GATA2 gene mutation;
Emberger syndrome
- MeSH:
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
- From:The Korean Journal of Internal Medicine
2016;31(1):188-190
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
