| 1 | FOXC2, LPDD, YNS
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| Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
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| Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S.
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| Hum Genet 117(2-3):238-242. Epub 2005 May 20. 2005
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| 2 | FOXC2, LPDD,FOXC1, FOXE1, FOXE3, FOXL2, FOXN1, FOXP2, FOXP3, YNS
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| The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
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| Berry FB, Tamimi Y, Carle MV, Lehmann OJ, Walter MA.
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| Hum Mol Genet 14(18):2619-27. Epub 2005 Aug 4. 2005
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| 3 | LPDD, FOXC2, YNS
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| A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.
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| Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E.
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| Am J Med Genet 131A(3):281-6. 2004
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| 4 | FOXC1, FOXC2, LPDD, YNS
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| Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
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| Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE.
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| Hum Mol Genet 10(11):1185-9. 2001
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