Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <i>SPR</i> and <i>ZNF142</i>: A Case Report and Review of the UPD2 Literature
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic pathogenic variants in SPR lead to sepiapterin reducta...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2024-01-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1785442 |