Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature
Article in Global Medical Genetics (January 2024)
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Article in Global Medical Genetics (January 2024)
Article in Physiological Reviews (August 2023)
Article in Molecular Cytogenetics (August 2023)