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Journal Abstract Search

408 related items for PubMed ID: 24734328

  • 1. 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; 59(1):11-4. PubMed ID: 24734328
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  • 2. 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; 34(8):e726-8. PubMed ID: 19663851
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  • 3. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
    Brueggemann FB, Bartsch O.
    Clin Dysmorphol; 2016 Apr; 25(2):50-3. PubMed ID: 26882220
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  • 11. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
    Paranaíba LM, Martelli-Júnior H, de Miranda RT, Bufalino A, Abdo Filho RC, Coletta RD.
    Cleft Palate Craniofac J; 2010 Sep; 47(5):544-7. PubMed ID: 20180707
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  • 12. 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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  • 13. Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
    Gonzalez F, Loidi L, Abalo-Lojo JM.
    Ophthalmic Genet; 2017 Nov; 38(3):277-280. PubMed ID: 27485918
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  • 16. ADULT syndrome caused by a mutation previously associated with EEC syndrome.
    Avitan-Hersh E, Indelman M, Bergman R, Sprecher E.
    Pediatr Dermatol; 2010 Nov; 27(6):643-5. PubMed ID: 21078104
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  • 17. Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.
    Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE.
    Ophthalmology; 2012 Jan; 119(1):74-83. PubMed ID: 21959367
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  • 18. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
    Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA.
    Br J Dermatol; 2010 Jan; 162(1):201-7. PubMed ID: 19903181
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