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Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A 2010;152A(9): 2287-96.10.1002/ajmg.a.33445MansourSConnellFStewardCOstergaardPBriceGSmithsonSLuntPJefferySDokalIVulliamyTGibsonBHodgsonSCottrellSKielyLTinworthLKalidasKMuftiGCornishJKeenanRMortimerPMurdayVLymphoedema Research Consortium. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new casesAm J Med Genet A2010152A922879620803646Open DOISearch in Google Scholar
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 2011; 43(10): 929-31.2189215810.1038/ng.923OstergaardPSimpsonMAConnellFCStewardCGBriceGWoollardWJDafouDKiloTSmithsonSLuntPMurdayVAHodgsonSKeenanRPilzDTMartinez-CorralIMakinenTMortimerPSJefferySTrembathRCMansourSMutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Nat Genet201143109293121892158Search in Google Scholar
S Michelini, M Cardone, M Haag O Agga, A Bruson, PE Maltese, A Bonizzato, M Bertelli. A rare case of emberger syndrome caused by a de novo mutation in the Gata2 Gene. Lymphology. 2016; 49(1): 15-20.MicheliniSCardoneMHaagMAggaOBrusonAMaltesePEBonizzatoABertelliMA rare case of emberger syndrome caused by a de novo mutation in the Gata2 GeneLymphology20164911520Search in Google Scholar
http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA2&keywords=gata2http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA2&keywords=gata2Search in Google Scholar
Kazenwadel J, Betterman KL, Chong CE, Stokes PH, Lee YK, Secker GA, Agalarov Y, Demir CS, Lawrence DM, Sutton DL, Tabruyn SP, Miura N, Salminen M, Petrova TV, Matthews JM, Hahn CN, Scott HS, Harvey NL. GATA2 is required for lymphatic vessel valve development and maintenance. J Clin Invest. 2015; 125(8): 2979-2994.10.1172/JCI7888826214525KazenwadelJBettermanKLChongCEStokesPHLeeYKSeckerGAAgalarovYDemirCSLawrenceDMSuttonDLTabruynSPMiuraNSalminenMPetrovaTVMatthewsJMHahnCNScottHSHarveyNLGATA2 is required for lymphatic vessel valve development and maintenanceJ Clin Invest2015125829792994456374226214525Open DOISearch in Google Scholar
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 2012; 119(5): 1283-1291.2214789510.1182/blood-2011-08-374363KazenwadelJSeckerGALiuYJRosenfeldJAWildinRSCuellar-RodriguezJHsuAPDyackSFernandezCVChongCEBabicMBardyPGShimamuraAZhangMYWalshTHollandSMHicksteinDDHorwitzMSHahnCNScottHSHarveyNLLoss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureBlood2012119512831291327735922147895Search in Google Scholar
Sang Kyung Seo, Kyu Yeun Kim, Seo Ae Han, Joon Seok Yoon, Sang-Yong Shin, Sang Kyun Sohn, and Joon Ho Moon. First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. Korean J Intern Med 2016; 31(1): 188-190.26767875SeoSang KyungKyu YeunKimSeo AeHanJoon SeokYoonSang-YongShinSohnSang KyunMoonJoon HoFirst Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutationKorean J Intern Med201631118819010.3904/kjim.2016.31.1.188471242626767875Search in Google Scholar
Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009; 58 (RR-6): 1-37.19521335ChenBGagnonMShahangianSAndersonNLHowertonDABooneJDCenters for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and ConditionsMMWR Recomm Rep200958RR-6137Search in Google Scholar
