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September 10, 2025International Journal of Molecular SciencesOpen Access

Understanding the Molecular Basis of Miller–Dieker Syndrome

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Authors

GMGowthami MahendranJBJessica A. Brown

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Overview

This review highlights the molecular pathways involved in Miller–Dieker syndrome, revealing crucial insights into its neurodevelopmental aspects.

Key Points

  • Miller–Dieker syndrome is a rare neurodevelopmental disorder linked to a deletion on chromosome 17, impacting brain development.
  • Affected individuals often present with lissencephaly, growth retardation, and heart abnormalities, with distinctive facial features.
  • Key genes such as PAFAH1B1 and METTL16 play vital roles in neuronal migration, critical for cerebral cortex development.
  • Emerging model systems, including patient-derived organoids, are essential for understanding dysfunctional signaling in miller-dieker syndrome.

Cite This Study

Mahendran et al. (2025) studied this question.

synapsesocial.com/papers/68c19fa854b1d3bfb60db8a3https://doi.org/10.3390/ijms26157375
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Also Consider

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

  1. 1Miller-Dieker Syndrome: Genetic Etiology, Neurocognitive Impact, and Clinical Implications in a Neuronal Migration Disorder2026
  2. 2Abstract 1056 Multi-omics approach reveals genes and pathways affected in Miller-Dieker Syndrome2024
  3. 3A Brief Overview of the Molecular Landscape of Myelodysplastic Neoplasms2024 · 3 citations
  4. 4Multi-omics in MECP2 duplication syndrome patients and carriers.2024
  5. 5The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort2025