Sang Kyung Seo Kyu Yeun Kim Seo Ae Han Joon Seok Yoon Sang-Yong Shin Sang Kyun Sohn Joon Ho Moon
10.3904/kjim.2016.31.1.188
Korean J Intern Med
2016 Jan;31(1):188-90.
emberger syndrome gata2 gene mutation myelodysplastic syndromes
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/26767875/
Frameshift Mutation GATA2 Transcription Factor / genetics Lymphedema / genetics Myelodysplastic Syndromes / genetics
Frameshift Mutation GATA2 Transcription Factor / genetics Lymphedema / genetics Myelodysplastic Syndromes / genetics Case Reports Letter DNA Mutational Analysis Female Genetic Predisposition to Disease Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics Humans Lymphedema / diagnosis Myelodysplastic Syndromes / diagnosis Phenotype Republic of Korea Young Adult GATA2 Transcription Factor GATA2 protein, human
PMC4712426
26767875
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation
2016