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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...

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Detalles Bibliográficos
Autores principales: Songsantiphap, Chankiat, Suwanwatana, Jirat, Ittiwut, Chupong, Asawanonda, Pravit, Rerknimitr, Pawinee, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
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