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

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

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...

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Bibliographic Details
Main Authors: Li Wu, Yajie Zhang, Juan Zi, Yinyan Yan, Lihua Yu, Danna Lin, Lulu Huang, Xiaorong Lai, Xu Liao, Lihua Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Pediatrics
Subjects:
KDSR
keratodermia
thrombocytopenia
children
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.940618/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.940618/full

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