Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature - Kelkar, Janhawi; DiMaio, Miriam; Ma, Deqiong; Zhang, Hui (Global medical genetics, 2024)
Keywords: chromosome 2 uniparental disomy; genomic imprinting; Review; sepiapterin reductase deficiency; chromosome 2 uniparental disomy; sepiapterin reductase deficiency; genomic imprinting