Porokeratosis
Definition:
References:
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[1]. Hongzhou Cui, et al. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet. 2014 Oct;51(10):699-704. [Content Brief]
[2]. P Sertznig, et al. Porokeratosis: present concepts. J Eur Acad Dermatol Venereol. 2012 Apr;26(4):404-12. [Content Brief]
[3]. Sheng-Quan Zhang, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012 Oct;44(10):1156-60. [Content Brief]
[4]. Zhenghua Zhang, et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife. 2015 Jul 23;4:e06322. [Content Brief]