Categoría: Articulos
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Genetic Testing in Clinical Immunology: What to Know and How to Do It
Genetically driven immune diseases are immune-mediated disorders involving germline and/or somatic host genetic changes that make a major contribution to disease pathogenesis. These conditions, which include the inborn errors of immunity, may predispose patients to the development of immunodeficiency, immune dysregulation, atopy, autoinflammation or hyperinflammation, and malignancy. Since the development of massively parallel sequencing, also…
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Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature
46,XX testicular disorder of sex development (DSD), also known as XX male syndrome, is a rare condition where an individual with a 46,XX karyotype develops a male phenotype. In 90% of cases, the syndrome results from the translocation of the SRY gene t…
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Abnormal lymph vessels show heightened growth signaling regardless of key gene mutation
Lymphatic malformations are rare disorders in which lymph vessels develop abnormally, often beginning in childhood and sometimes causing swelling, infection, bleeding, pain or airway obstruction.
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Inherited lupus can begin early—and continue silently
A multicenter study led by researchers at Sultan Qaboos University has found that patients with a rare inherited form of lupus may continue to accumulate organ damage even when conventional measures indicate that their disease activity has declined. Ac…
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Unexpected link identified between rare metabolic disease gene and inherited blindness
Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder.
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Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy
European Journal of Human Genetics, Published online: 06 October 2026; doi:10.1038/s41431-026-02227-2Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy
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Health inequalities in precision medicine: A systematic review
European Journal of Human Genetics, Published online: 06 October 2026; doi:10.1038/s41431-026-02225-4Health inequalities in precision medicine: A systematic review
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Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I
Hypomorphic variants in IDUA are associated with attenuated mucopolysaccharidosis type 1, including apparent non-syndromic retinitis pigmentosa. Functional experiments are used to characterize the impact of variants on expression and enzyme activity an…
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International study validates less invasive approach to diagnosing mitochondrial disease
Researchers at Children’s Hospital Colorado (Children’s Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing n…
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Blood biomarkers identified with multi-omics combined with clinical and muscle imaging in oculopharyngeal muscular dystrophy
Background Results Conclusions Clinical tria…