Lenfödem-distikiazis sendromu
Lymphedema-distichiasis
Kalıtsal - AD
İki sıralı kirpik
Meibomian bezlerinin duktuslarında kirpikler (distichiasis)
Kornea ülserleri
Konjunktivit
Arpacıklar
Ptozis
Yarık dudak
Yarık damak
Fallot tetralojisi
Aritmiler
Varisler
Alt ekstremitelerde ödem
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Brice G, Mansour S, Bell R, et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. Journal of Medical Genetics, 39: 478-483, 2002
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Yıldırım-Toruner C, Subramanian K, El Manjra L, et al. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. American Journal of Medical Genetics, 131A: 281-286, 2004
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Kumar S, Carver C, McCall S, et al. Lymphoedema Consortium. A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. (Letter) Clinical Genetics, 71: 285-287, 2007