Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia

• Váldodahkkit: Li Wu (Dahkki), Yajie Zhang (Dahkki), Juan Zi (Dahkki), Yinyan Yan (Dahkki), Lihua Yu (Dahkki), Danna Lin (Dahkki), Lulu Huang (Dahkki), Xiaorong Lai (Dahkki), Xu Liao (Dahkki), Lihua Yang (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

KDSR (3-ketodihydrosphingosine reductase) is a short-chain dehydrogenase located in the endoplasmic reticulum. Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues. Herein, we report a case of compound heterozygous mutations in...