| 1 | EBSPD, PKP1
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| A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.
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| Abdalla EM, Has C.
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| Mol Syndromol 5(6):304-6. doi: 10.1159/000369267. Epub 2014 Nov 28.
2014
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| 2 | EBSPD, PKP1
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| Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
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| Tanaka A, Lai-Cheong JE, Café ME, Gontijo B, Salomão PR, Pereira L, McGrath JA.
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| Br J Dermatol 160(3):692-7. doi: 10.1111/j.1365-2133.2008.08900.x. Epub 2008 Oct 21.
2009
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| 3 | EBSPD, PKP1
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| Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
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| Zheng R, Bu DF, Zhu XJ.
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| Acta Derm Venereol 85(5):394-9. 2005
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| 4 | EBSPD, PKP1
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| Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
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| Wessagowit V, McGrath JA.
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| Acta Derm Venereol 85(5):386-8. No abstract available. 2005
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| 5 | EBSPD, PKP1
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| Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
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| Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA.
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| J Invest Dermatol 115(3):368-74. 2000
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| 6 | EBSPD, PKP1
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| Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
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| McGrath JA, et al.
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| Br J Dermatol 140(2):297-307. 1999
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| 7 | EBSPD, PKP1
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| The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease.
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| Kowalczyk AP, et al.
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| J Biol Chem 274(26):18145-8. 1999
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| 8 | EBSPD, PKP1
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| Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
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| McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA.
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| Nat Genet 17(2):240-4. 1997
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