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
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
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