1.
Front Pediatr
; 10: 940618, 2022.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35958175
RESUMEN
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 KDSR that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.