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Journal Abstract Search

180 related items for PubMed ID: 29430627

  • 1. 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; 82(4):232-238. PubMed ID: 29430627
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  • 3. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
    Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.
    Genet Res (Camb); 2023 Jul; 2023():9999660. PubMed ID: 37829154
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  • 11. 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; 42(7):715-9. PubMed ID: 25913853
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  • 15. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
    Khan SA, Rukan A, Ullah A, Bibi N, Humayun M, Ullah W, Raza R, Muhammad N, Ahmad W, Khan S, E-Kalsoom U.
    Eur J Dermatol; 2020 Aug 01; 30(4):408-416. PubMed ID: 32819890
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  • 17. 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 01; 134(8):2146-2153. PubMed ID: 24577405
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  • 20. A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
    Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S.
    BMC Med Genet; 2017 Apr 12; 18(1):42. PubMed ID: 28403827
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