Article

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect

2025-10-06

Abstract excerpt

Multilocus pathogenic variation—when multiple genetic disorders coexist in a single individual—remains rare but is increasingly recognized in the era of genomic medicine. Reporting such cases is essential to improve diagnostic accuracy, refine clinical management, and inform genetic counseling. We describe a pediatric case with three distinct genetic diagnoses contributing to an atypical and complex phenotype. The...

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Literature Corpus work: d8134f47-ec40-5049-af51-c4d7b9d07144
DOI: 10.20944/preprints202510.0371.v1

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