Multiple selbsheilende palmoplantare Karzinome ist eine autosomal dominante Erkrankung, die durch Mutationen im NLRP1-Gen ausgelöst wird.
1. |
Soler VJ et. al. (2013) Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. |
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Mama et. al. (2015) Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. |
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Zhong FL et. al. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. |