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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; 42(7):715-9. PubMed ID: 25913853 [TBL] [Abstract][Full Text] [Related]
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; 56(5):352-7. PubMed ID: 21346770 [TBL] [Abstract][Full Text] [Related]
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; 134(8):2146-2153. PubMed ID: 24577405 [TBL] [Abstract][Full Text] [Related]
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; 57(2):223-226. PubMed ID: 29265343 [TBL] [Abstract][Full Text] [Related]
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; 79(2):92-8. PubMed ID: 25529316 [TBL] [Abstract][Full Text] [Related]
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; 82(4):232-238. PubMed ID: 29430627 [TBL] [Abstract][Full Text] [Related]
8. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review. Rotunno R; Diociaiuti A; Dentici ML; Rinelli M; Callea M; Retrosi C; Zambruno G; Bellacchio E; El Hachem M Genes (Basel); 2021 May; 12(5):. PubMed ID: 34067522 [TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. Rodini ES; Richieri-Costa A Am J Med Genet; 1990 Aug; 36(4):473-6. PubMed ID: 2167611 [TBL] [Abstract][Full Text] [Related]
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11. [Mutations in gene PVRL4 encoding for cell adhesion molecule Nectin-4 in ectodermal dysplasia-syndactyly syndrome]. Dereure O Ann Dermatol Venereol; 2011 Feb; 138(2):159-60. PubMed ID: 21333831 [No Abstract] [Full Text] [Related]
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; 98(5):580-586. PubMed ID: 37183149 [TBL] [Abstract][Full Text] [Related]
13. Nectinopathies: an emerging group of ectodermal dysplasia syndromes. Brancati F; Agolini E; Fortugno P G Ital Dermatol Venereol; 2013 Feb; 148(1):59-64. PubMed ID: 23407077 [TBL] [Abstract][Full Text] [Related]
14. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Suzuki K; Hu D; Bustos T; Zlotogora J; Richieri-Costa A; Helms JA; Spritz RA Nat Genet; 2000 Aug; 25(4):427-30. PubMed ID: 10932188 [TBL] [Abstract][Full Text] [Related]
15. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Petrof G; Nanda A; Howden J; Takeichi T; McMillan JR; Aristodemou S; Ozoemena L; Liu L; South AP; Pourreyron C; Dafou D; Proudfoot LE; Al-Ajmi H; Akiyama M; McLean WH; Simpson MA; Parsons M; McGrath JA Am J Hum Genet; 2014 Sep; 95(3):308-14. PubMed ID: 25152456 [TBL] [Abstract][Full Text] [Related]
16. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate. Martínez B; Monasterio L; Pinheiro M; Freire-Maia N Am J Med Genet; 1987 May; 27(1):23-31. PubMed ID: 3037904 [TBL] [Abstract][Full Text] [Related]
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