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
Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant.
Darouich S et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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