ArticleMolecular syndromology2026
Expandingthe Phenotypic Spectrum of
Article in Molecular syndromology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Case Presentation: We describe a 17-year-old girl born to second-degree consanguineous parents presenting with lifelong global developmental delay, microcephaly, gray sclera, dysmorphic features, and intellectual disability. Neurological examination revealed hyporeflexia without seizures. Brain MRI demonstrated stable, nonprogressive, linear-nodular T2 hyperintense lesions confined to the subcortical white matter with a normal corpus callosum, an imaging pattern rarely associated with Conclusion: This first reported
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.