ArticleMolecular syndromology2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with
Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- An inducible system to study the regulatory functions of GSX2 in human lateral ganglionic eminence-like progenitors.Developmental biology · 2026Article
- Modelling a pathological GSX2 variant that selectively alters DNA binding reveals hypomorphic mouse brain defects.Disease models & mechanisms · 2025Article
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6 authors.
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Abstract
Introduction: Diencephalic-mesencephalic junction dysplasia syndrome is a rare neurogenetic disorder reported to be caused by variants in several genes. Phenotypic presentation is characterized by clinical findings including developmental delay, hypotonia, spasticity, and dyskinetic movements in combination with distinctive imaging features on brain magnetic resonance imaging (MRI). Methods: Whole exome sequencing was conducted to unveil the molecular etiology of patients presenting with neurological manifestations from two unrelated families. Results: To the best of our knowledge, here we report the third family affected with diencephalic-mesencephalic junction dysplasia caused by a novel variant in Conclusion: Identifying variants associated with the syndrome in different genes will contribute to genotype-phenotype correlation.
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