Li Wu Yajie Zhang Juan Zi Yinyan Yan Lihua Yu Danna Lin Lulu Huang Xiaorong Lai Xu Liao Lihua Yang
10.3389/fped.2022.940618
Front Pediatr
2022 Jul 26;10:940618.
kdsr case report children keratodermia thrombocytopenia
CC BY
https://pubmed.ncbi.nlm.nih.gov/35958175/
Case Reports
PMC9360485
35958175
Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
2022