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Hereditary nasal parakeratosis (HNPK) is an inherited monogenic autosomal recessive skin disorder.
25 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Hereditary nasal parakeratosis (HNPK) is an inherited monogenic autosomal recessive skin disorder. The disease causes crusts and fissures on the nasal planum of Labrador Retrievers. The disorder is caused by a mutation in the SUV39H2 gene. The mutation involves by the epigenetic regulation of keratinocyte differentiation, which ensures stratification and tight sealing of the mammalian epidermis.
Clinical symptoms are restricted to the epidermes of the nasal planum. As it is currently unclear why a defect in the histone modifying enzyme leads to the tissue-specific phenotype.
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Pubmed ID: 24098150
Omia ID: 1373