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Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7
Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SERPINB7 is reported to underlie the condition. Thou...
Autores principales: | Songsantiphap, Chankiat, Suwanwatana, Jirat, Ittiwut, Chupong, Asawanonda, Pravit, Rerknimitr, Pawinee, Shotelersuk, Vorasuk |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747047/ https://www.ncbi.nlm.nih.gov/pubmed/33362511 http://dx.doi.org/10.1159/000509535 |
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