Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Epidermolysis Bullosa Simplex With Mottled Pigmentation[original query] |
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A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. The Journal of investigative dermatology 2006 1 126 (1): 79-84. Richardson Elizabeth S, Lee Jason B, Hyde Patricia H, Richard Gabrie |
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