| 1 | KCNH1, TMBTS, ZLS1
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| Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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| Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
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| BMC Med Genet 17(1):42. doi: 10.1186/s12881-016-0304-4.
2016
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| 2 | KCNH1, TMBTS
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| Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
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| Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ.
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| Nat Genet 47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Erratum in: Nat Genet. 2015 Mar;47(3):304.
2015
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| 3 | TMBTS
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| Report of a patient with Temple-Baraitser syndrome.
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| Yesil G, Guler S, Yuksel A, Alanay Y.
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| Am J Med Genet A 164A(3):848-51. doi: 10.1002/ajmg.a.36344. Epub 2013 Dec 19. No abstract available.
2014
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| 4 | TMBTS
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| A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
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| Gabbett MT, Clark RC, McGaughran JM.
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| Am J Med Genet A 146A(4):450-2. doi: 10.1002/ajmg.a.32129.
2008
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