Associated Papers
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.
Wong GY et al.
Pediatric Blood & Cancer, 2023
Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.
Wijsmans D et al.
Pediatric Dermatology, 2023
Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia.
Wu L et al.
Frontiers in Pediatrics, 2022
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK et al.
Haematologica, 2019
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