1Sitton JE, Reirnund EL. Extramedullary hematopoiesis of the cranial dura and anhidrotic ectodermal dysplasia [ J ]. Neuropediatrics, 1992,23(3):108-110.
2Zonana J ,Jones M, Browne D,et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus [J]. Am J Hum Genet,1992,51(2) : 1036-1046.
1McGrath JA,McMillan JR,Shemanko CS,et al.Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.Nat Genet,1997,17:240-244.
2Hamada T,South AP,Mitsuhashi Y,et al.Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.Exp Dermatol,2002,11:107-114.
3Schmidt A,Langbein L,Rode M,et al.Plakophilins la and lb:widespread nuclear proteins recruited in specific epithelial cells asdesmosomal plaque components.Cell Tissue Res,1997,290:481-499.
4Moll I,Kurzen H,Langbein L,et al.The distribution of the desmosomal protein,plakophilin 1,in human skin and skin tumors.J Invest Dermatol,1997,108:139-146.
5Kowalczyk AP,Hatzfeld M,Bornslaeger EA,et al.The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes.Implications for cutaneous disease.J Biol Chem,1999,274:18145-18148.
6Hatzfeld M,Haffner C,Schulze K,et al.The function of plakophilin I in desmosome assembly and actin filament organization.J Cell Biol,2000,149:209-222.
7Bornslaeger EA,Godsel LM,Corcoran CM,et al.Plakophilin I interferes with plakoglobin binding to desmoplakin,yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders.J Cell Sci,2001,114:727-738.
