TP63 mutasyonu içeren sendromlar
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AEC sendromu (ankyloblepharon-ectodermal defects-cleft lip/palate, Hay-Wells sendromu; fenotip: Rapp-Hodgkin sendromu)
ADULT sendromu (acro-dermo-ungual-lacrimal-tooth)
EEC3 sendromu (ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3)
Orofasiyal yarık sendromu 8 (isolated cleft lip/cleft palate; orofacial cleft 8)
Ortak bulgulara göre
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Ektodermal displazi bulguları içerenler: AEC, ADULT, EEC3 , Limb-mammary sendromu
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Diş anomalileri içerenler: AEC, ADULT, EEC3 , Limb-mammary sendromu
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Damak/dudak yarıkları içerenler: AEC, ADULT, EEC3 , Limb-mammary sendromu, Orofasiyal yarık 8
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Aşırı çillenme: ADULT
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El-ayak yarıkları: AEC, ADULT,EEC3, Limb-mammary sendromu
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Rinne T, Hamel B, van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes--update. American Journal of Medical Genetics A, 140A:1396–406, 2006
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Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007
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Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009
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Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009
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Su X, Chakravarti D, Cho MS, et al. TAp63 suppresses metastasis through coordinate regulation of Dicer and miRNAs. Nature, 467: 986-990, 2010
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Deutsch GB, Zielonka EM, Coutandin D, et al. DNA damage in oocytes induces a switch of the quality control factor TAp63-alpha from dimer to tetramer. Cell, 144: 566-576, 2011
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