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

• Main Authors: Li Wu (Author), Yajie Zhang (Author), Juan Zi (Author), Yinyan Yan (Author), Lihua Yu (Author), Danna Lin (Author), Lulu Huang (Author), Xiaorong Lai (Author), Xu Liao (Author), Lihua Yang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...