HIGHLIGHTS
- who: Atsushi Hattori from the DepartmentMedical University have published the article: Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome, in the Journal: (JOURNAL) of 15/08/2022
- how: These results indicated that the patient had UPD(7)mat or hemizygosity associated with paternal deletion.
SUMMARY
Received Published online: 12 September 2022 Sequencing analysis with a panel including causative genes for urea_cycle disorders (ARG1, ASL, ASS1, CPS1, NAGS, OTC, and SLC25A15) revealed a homozygous variant in intron 15 of ASL (NC_000007:c.1144-9 G > A) in . . .
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