title: First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Sang Kyung
authors.initials: SK
authors.lastname: Seo
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Kyu Yeun
authors.initials: KY
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Seo Ae
authors.initials: SA
authors.lastname: Han
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Joon Seok
authors.initials: JS
authors.lastname: Yoon
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sang-Yong
authors.initials: SY
authors.lastname: Shin
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Sang Kyun
authors.initials: SK
authors.lastname: Sohn
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Joon Ho
authors.initials: JH
authors.lastname: Moon
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D050989:GATA2 Transcription Factor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D056910:Republic of Korea; D055815:Young Adult
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human
keywords: Emberger syndrome; GATA2 gene mutation; Myelodysplastic syndromes