Sindrom Loeys-Dietz

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Sindrom Loeys-Dietz bahasa Inggris: Loeys-Dietz syndrome, Aneurysm syndromes, autosomal dominant aortic-aneurysm syndrome, LDS) adalah sebuah sindrom yang mirip dengan sindrom Marfan dan sindrom Ehlers-Danlos, yang berdampak pada jaringan penghantar dan disebabkan oleh mutasi genetik pada ekspresi pencerap 1 dan 2 TGF-beta,[1][2][3] dan GLUT10.[4]

LDS pertama kali diamati oleh Bart Loeys dan Hal Dietz pada Johns Hopkins University School of Medicine pada tahun 2005.

Gejala LDS ditandai antara lain dengan arterial tortuosity, aneurysms, hypertelorism, dan bifid uvula atau cleft palate.[1]

Rujukan[sunting | sunting sumber]

  1. ^ a b (Inggris)"Aneurysm syndromes caused by mutations in the TGF-beta receptor". McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore; Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Diakses 2010-05-03. 
  2. ^ (Inggris)"Severe aortic and arterial aneurysms associated with a TGFBR2 mutation". University of Texas Medical School; Scott A LeMaire, Hariyadarshi Pannu, Van Tran-Fadulu, Stacey A Carter, Joseph S Coselli and Dianna M Milewicz. Diakses 2010-05-03. 
  3. ^ (Inggris)"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2". McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine; Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Diakses 2010-05-03. 
  4. ^ (Inggris)"Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome". Center for Medical Genetics, Ghent University; Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Diakses 2010-05-03. 

Pranala luar[sunting | sunting sumber]