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Journal Abstract Search

165 related items for PubMed ID: 22607287

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  • 2. 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.
    Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.
    Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121
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  • 4. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
    Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI.
    Medicine (Baltimore); 2020 Oct 30; 99(44):e22816. PubMed ID: 33126320
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  • 11. 'Double trouble': diagnostic challenges in genetic skin disorders.
    Kiritsi D, Valari M, Mileounis K, Bruckner-Tuderman L, Has C.
    Br J Dermatol; 2015 Jan 30; 172(1):276-8. PubMed ID: 24902867
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  • 12. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
    Propping P, Zerres K.
    Am J Med Genet; 1993 Mar 01; 45(5):642-8. PubMed ID: 8456838
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  • 15. Ectodermal dysplasias: the p63 tail.
    Tadini G, Santagada F, Brena M, Pezzani L, Nannini P.
    G Ital Dermatol Venereol; 2013 Feb 01; 148(1):53-8. PubMed ID: 23407076
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  • 16. TP63 gene mutations in Chinese P63 syndrome patients.
    Yin W, Ye X, Shi L, Wang QK, Jin H, Wang P, Bian Z.
    J Dent Res; 2010 Aug 01; 89(8):813-7. PubMed ID: 20410354
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  • 17. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
    Gawrych E, Bińczak-Kuleta A, Janiszewska-Olszowska J, Ciechanowicz A.
    Ann Acad Med Stetin; 2013 Aug 01; 59(1):11-4. PubMed ID: 24734328
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sutton VR, van Bokhoven H.
    ; 1993 Aug 01. PubMed ID: 20556892
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  • 20. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
    Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC.
    Clin Exp Dermatol; 2009 Dec 01; 34(8):e726-8. PubMed ID: 19663851
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