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PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S. Maass PG, et al. Among authors: toka o, toka hr. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11. Nat Genet. 2015. PMID: 25961942 Free article.
Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.
Toka O, Tank J, Schächterle C, Aydin A, Maass PG, Elitok S, Bartels-Klein E, Hollfinger I, Lindschau C, Mai K, Boschmann M, Rahn G, Movsesian MA, Müller T, Doescher A, Gnoth S, Mühl A, Toka HR, Wefeld-Neuenfeld Y, Utz W, Töpper A, Jordan J, Schulz-Menger J, Klussmann E, Bähring S, Luft FC. Toka O, et al. Among authors: toka hr. Hypertension. 2015 Oct;66(4):800-8. doi: 10.1161/HYPERTENSIONAHA.115.06000. Epub 2015 Aug 17. Hypertension. 2015. PMID: 26283042
Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.
Bähring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, Fesüs G, Haefeli WE, Busjahn A, Aydin A, Neuenfeld Y, Mühl A, Toka HR, Gollasch M, Jordan J, Luft FC. Bähring S, et al. Among authors: toka o, toka hr. Hypertension. 2004 Feb;43(2):471-6. doi: 10.1161/01.HYP.0000111808.08715.ec. Epub 2004 Jan 5. Hypertension. 2004. PMID: 14707163
58 results