Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19
Am J Med Genet A. 2025 May 22:e64125. doi: 10.1002/ajmg.a.64125. Online ahead of print. ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both …