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 | ATP6V1B2, KCNH1, ZLS1, ZLS2
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| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
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| Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K.
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| Nat Genet 47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27.
2015
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3 | ZLS1, ZLS2
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| Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
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| Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P.
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| Eur J Med Genet 56(10):570-6. doi: 10.1016/j.ejmg.2013.08.004. Epub 2013 Aug 27. Review.
2013
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4 | ZLS1, ZLS2
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| Report of a case of Zimmermann-Laband syndrome with new manifestations.
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| Lin Z, Wang T, Sun G, Huang X.
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| Int J Oral Maxillofac Surg 39(9):937-41. doi: 10.1016/j.ijom.2010.01.023. Epub 2010 May 10.
2010
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