Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature

Zhang J, Wang Y, Cheng R, Ni C, Liang J, Li M, Yao Z. Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. Clin Exp Dermatol. 2016 Oct;41(7):757-60.