Article
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
The Journal of investigative dermatology - 1 Nov 2017
Takeichi Takuya, Torrelo Antonio, Lee John Y W, Ohno Yusuke, Lozano María Luisa, Kihara Akio, Liu Lu, Yasuda Yuka, Ishikawa Junko, Murase Takatoshi, Rodrigo Ana Belén, Fernández-Crehuet Pablo, Toi Yoichiro, Mellerio Jemima, Rivera José, Vicente Vicente, Kelsell David P, Nishimura Yutaka, Okuno Yusuke, Kojima Daiei, Ogawa Yasushi, Sugiura Kazumitsu, Simpson Michael A, McLean W H Irwin, Akiyama Masashi, McGrath John A
Abstract excerpt
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo...
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