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March 28, 2024Molecular Genetics & Genomic MedicineOpen Access

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review

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Authors

MJMohammad JahanpanahDMDiana MokhtariHMHaleh Mokaber

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Jahanpanah et al. (2024) studied this question.

synapsesocial.com/papers/68e71ee5b6db643587698f2ehttps://doi.org/10.1002/mgg3.2424
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency2026 · 1 citations
  2. 2Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels2026
  3. 3A Novel Missense Substitution in NSUN2 and a Stop Codon in ASPM Causes Neurological Disorders in Pakistani Families2026
  4. 4Asparagine synthetase deficiency: clinical features and experience with asparagine supplementation2026
  5. 5A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report2025