deficient plakophilin-1 expression due to a mutation in pkp1 causes ectodermal dysplasia-skin fragility syndrome in chesapeake bay retriever dogspkp1 plakophilin-1不足表达由于基因突变导致外胚层的dysplasia-skin脆弱性综合症在切萨皮克海湾寻回犬狗.pdfVIP
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deficient plakophilin-1 expression due to a mutation in pkp1 causes ectodermal dysplasia-skin fragility syndrome in chesapeake bay retriever dogspkp1 plakophilin-1不足表达由于基因突变导致外胚层的dysplasia-skin脆弱性综合症在切萨皮克海湾寻回犬狗
Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs 1,2 . 3. 4. 1 5 Thierry Olivry * , Keith E. Linder , Ping Wang , Petra Bizikova , Joseph A. Bernstein , Stanley M. 1 1 4 Dunston , Judy S. Paps , Margret L. Casal 1 Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America, 2 Center for Comparative Medicine and Translational Research, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America, 3 Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America, 4 Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, 5 Long Green Animal Dermatology Center, Baldwin, Maryland, United States of America Abstract In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial e
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