This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet 2002; 112(4): 412-21.1237694710.1002/ajmg.10707Van BalkomIDAldersMAllansonJBelliniCFrankUDe JongGKolbeILacombeDRocksonSRowePWijburgFHennekamRCLymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a reviewAm J Med Genet2002112441221Search in Google Scholar
Hennekam Syndrome: National Library of Medicine (US). Genetics Home Reference (Internet). Bethesda (MD): The Library; 2017 Oct 10; (Reviewed: July 2014; Published: October 10, 2017); (about 6 screens). Available from: https://ghr.nlm.nih.gov/condition/hennekam-syndrome#sourcesforpageHennekam Syndrome: National Library of Medicine (US)Genetics Home Reference (Internet)Bethesda (MD)The Library; 2017 Oct 10; (Reviewed: July 2014; Published: October 10, 2017); (about 6 screens). Available fromhttps://ghr.nlm.nih.gov/condition/hennekam-syndrome#sourcesforpageSearch in Google Scholar
Scarcella A, De Lucia A, Pasquariello MB, Gambardella P. Early death in two sisters with Hennekam syndrome. Am J Med Genet 2000; 93(3): 181-183.1092537710.1002/1096-8628(20000731)93:3<181::AID-AJMG3>3.0.CO;2-BScarcellaADe LuciaAPasquarielloMBGambardellaPEarly death in two sisters with Hennekam syndromeAm J Med Genet2000933181183Search in Google Scholar
Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Mol Syndromol 2013; 4(3): 107-13.23653581AldersMMendolaAAdèsLAl GazaliLBelliniCDallapiccolaBEderyPFrankUHornshuhFHuismanSAJagadeeshSKayseriliHKengWTLevDPradaCESampsonJRSchmidtkeJShashiVvan BeverYVan der AaNVerhagenJMVerheijJBVikkulaMHennekamRCEvaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsMol Syndromol2013431071310.1159/000342486Search in Google Scholar
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009; 41(12): 1272-1274.1993566410.1038/ng.484AldersMHoganBMGjiniESalehiFAl-GazaliLHennekamEAHolmbergEEMannensMMMulderMFOfferhausGJPrescottTESchroorEJVerheijJBWitteMZwijnenburgPJVikkulaMSchulte-MerkerSHennekamRCMutations in CCBE1 cause generalized lymph vessel dysplasia in humansNat Genet2009411212721274Search in Google Scholar
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 2014; 133(9): 1161-1167.10.1007/s00439-014-1456-yAldersMAl-GazaliLCordeiroIDallapiccolaBGaravelliLTuysuzBSalehiFHaagmansMAMookORMajoieCBMannensMMHennekamRCHennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeHum Genet2014133911611167Open DOISearch in Google Scholar
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum Mol Genet 2017; 26(21): 4095-4104.2898535310.1093/hmg/ddx297BrouillardPDupontLHelaersRCoulieRTillerGEPeedenJColigeAVikkulaMLoss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3Hum Mol Genet2017262140954104Search in Google Scholar
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One. 2013; 8(9): e75770.10.1371/journal.pone.007577024086631ShahSConlinLKGomezLAagenaesØEiklidKKniselyASMennutiMTMatthewsRPSpinnerNBBullLNCCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydropsPLoS One201389e75770Open DOISearch in Google Scholar
Hogan BM, Bos FL, Bussmann J, Witte M, Chi NC, Duckers HJ, Schulte-Merker S. Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. Nat Genet 2009; 41: 396–3981928738110.1038/ng.321HoganBMBosFLBussmannJWitteMChiNCDuckersHJSchulte-MerkerSCcbe1 is required for embryonic lymphangiogenesis and venous sproutingNat Genet200941396398Search in Google Scholar
Bos FL, Caunt M, Peterson-Maduro J, Planas-Paz L, Kowalski J, Karpanen T, van Impel A, Tong R, Ernst JA, Korving J, van Es JH, Lammert E, Duckers HJ, Schulte-Merker S. CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo. Circ Res. 2011; 109(5): 486-491.2177843110.1161/CIRCRESAHA.111.250738BosFLCauntMPeterson-MaduroJPlanas-PazLKowalskiJKarpanenTvan ImpelATongRErnstJAKorvingJvan EsJHLammertEDuckersHJSchulte-MerkerSCCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivoCirc Res20111095486491Search in Google Scholar
