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November 25, 2025Journal of Medical Case ReportsOpen Access

A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report

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Authors

OPOtabek PulatovWNWilliam NguyenDVDiego Alvarez VegaLong Island University

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Pulatov et al. (2025) studied this question.

synapsesocial.com/papers/6940399e2d562116f290b626https://doi.org/10.1186/s13256-025-05675-4
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Also Consider

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

  1. 1A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report2025
  2. 2Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation2025
  3. 3Ash1l loss-of-function results in structural birth defects and altered cortical development2024 · 7 citations
  4. 4A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review2024 · 5 citations
  5. 5Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report2026