ArticleOxford medical case reports2023
A novel variant of Paganini-Miozzo syndrome: a case report.
Article in Oxford medical case reports, 2023. 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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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.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Combined HS6ST1 and HS6ST2 loss disrupts the formation and migration of gonadotropin-releasing hormone neurons.Development (Cambridge, England) · 2026Article
- A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes.Frontiers in genetics · 2025Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck holding and hand tremors. The examinations found facial anomalies. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and diffused white matter, and irregularities were seen in his electroencephalogram (EEG). The echocardiography revealed a mid-muscular ventricular septal defect. A whole exome sequencing (WES) analysis revealed a novel variant (c.979C > T; p.Pro327Ser) of uncertain significance in the HS6ST2 gene indicating Paganini-Miozzo syndrome. The current case provides additional evidence that MRXSPM can be associated with various neurological and cardiac complications. It is essential to rule out other causes, such as metabolic and infectious diseases. EEG, MRI and WES analyses can help to make a definitive diagnosis.
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Registered trials
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