Associated Papers
Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis.
Wei Z et al.
The Journal of Dermatology, 2025
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Schenk B et al.
The Journal of Clinical Investigation, 2001
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