| 1 | ADULT, TP63
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| ADULT syndrome due to an R243W mutation in TP63.
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| Berk DR, Armstrong NL, Shinawi M, Whelan AJ.
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| Int J Dermatol 51(6):693-6. doi: 10.1111/j.1365-4632.2011.05375.x.
2012
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| 2 | ADULT, TP63
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| Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
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| Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.
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| Am J Med Genet A 155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.
2011
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| 3 | ADULT, TP63
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| A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia.
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| van Zelst-Stams WA, van Steensel MA.
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| Am J Med Genet A 149A(7):1558-60. No abstract available. PMID: 19530185 2009
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| 4 | ADULT
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| The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.
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| Kier-Swiatecka E, Kock M, Marker P, Eiberg H, Kjaer KW.
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| Am J Med Genet A 143(8):891-4. No abstract available. 2007
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| 5 | TP63, AEC, LMS, SHFM4, ADULT, RHS, EEC3
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| p63-associated disorders.
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| Rinne T, Brunner HG, van Bokhoven H.
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| Cell Cycle 6(3):262-8. Epub 2007 Feb 3. Review. 2007
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| 6 | SHFM4, EEC3, AEC, LMS, ADULT, RHS
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| Pattern of p63 mutations and their phenotypes-update.
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| Rinne T, Hamel B, Bokhoven H, Brunner HG.
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| Am J Med Genet A 140(13):1396-406. 2006
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| 7 | ADULT,TP63
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| Further phenotypic and genetic variation in ADULT syndrome.
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| Reisler TT, Patton MA, Meagher PP.
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| Am J Med Genet A 140(22):2495-500. 2006
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| 8 | ADULT,AEC,RHS,TP63
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| Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
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| Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van Bokhoven H.
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| Clin Genet 66(1):79-80. No abstract available. 2004
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| 9 | ADULT,TP63
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| Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
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| Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dotsch V, Brunner HG, van Bokhoven H.
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| Hum Mol Genet 11(7):799-804. 2002
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| 10 | ADULT,TP63
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| TP63 gene mutation in ADULT syndrome.
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| Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T.
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| Eur J Hum Genet 9(8):642-5. 2001
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| 11 | ADULT
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| ADULT syndrome allelic to limb mammary syndrome (LMS)?
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| Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K.
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| Am J Med Genet 90(2):179-82. 2000
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