Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Multiple self-healing palmoplantar carcinomata is an autosomal dominant disorder caused by mutations of the NLRP1 gene.
| 1. |
Soler VJ et. al. (2013) Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 
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| 2. |
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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| 3. |
Zhong FL et. al. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
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