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Journal Abstract Search

256 related items for PubMed ID: 20691405

  • 1. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
    Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B.
    Am J Hum Genet; 2010 Aug 13; 87(2):265-73. PubMed ID: 20691405
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  • 2. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
    Yoshida K, Hayashi R, Fujita H, Kubota M, Kondo M, Shimomura Y, Niizeki H.
    J Dermatol; 2015 Jul 13; 42(7):715-9. PubMed ID: 25913853
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  • 3. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
    Jelani M, Chishti MS, Ahmad W.
    J Hum Genet; 2011 May 13; 56(5):352-7. PubMed ID: 21346770
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  • 4. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
    Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F.
    J Invest Dermatol; 2014 Aug 13; 134(8):2146-2153. PubMed ID: 24577405
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  • 5. A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
    Florian R, Gruber R, Volc-Platzer B.
    Int J Dermatol; 2018 Feb 13; 57(2):223-226. PubMed ID: 29265343
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  • 6. A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
    Raza SI, Nasser Dar R, Shah AA, Ahmad W.
    Ann Hum Genet; 2015 Mar 13; 79(2):92-8. PubMed ID: 25529316
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  • 7. A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
    Ahmad F, Nasir A, Thiele H, Umair M, Borck G, Ahmad W.
    Ann Hum Genet; 2018 Jul 13; 82(4):232-238. PubMed ID: 29430627
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  • 12. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
    Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom.
    An Bras Dermatol; 2023 Jul 13; 98(5):580-586. PubMed ID: 37183149
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