COMPLETE CITATION
Citation and identifiers
Toolan KP, McGrath BT, Brinkmeier ML, et al.. “Ash1l loss-of-function results in structural birth defects and altered cortical development.” Brain. 148(1):55–68 · doi:10.1093/brain/awae218.
- PubMed ID
- 38943682 ↗
RESEARCH QUESTION
How does Ash1l loss affect structural development, cortical progenitor balance, and neuronal fate in the tested mouse models?
Germline and cortical-lineage mouse perturbations produced structural birth defects and altered cortical development, findings that do not directly predict outcomes in human heterozygous disorder.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
Germline and cortical-lineage mouse models show structural birth defects, altered progenitor balance, and cortical-neuron-fate effects.
What it cannot establish
Developmental mouse findings, including homozygous outcomes, do not predict the course of human heterozygous ASH1L-related disorder.
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