A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency
Asparagine Synthetase Deficiency (ASNSD) is a rare neurodevelopmental disorder primarily caused by pathogenic homozygous or compound heterozygous variants in the ASNS gene. Clinical manifestations typically include microcephaly, severe psychomotor developmental delay, progressive encephalopathy, epi...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2026-05-01
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| Seri Bilgileri: | Frontiers in Genetics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fgene.2026.1799796/full |
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