Associated Papers
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK et al.
Haematologica, 2019
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM et al.
American Journal of Human Genetics, 2017
Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.
Duan Y et al.
Indian Dermatology Online Journal, 0
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