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Overcoming the challenges of rare disease clinical research
Oct 29, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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X-linked chondrodysplasia punctata 1 (CDPX1) due to ARSL pathogenic variants and Xp22.33 contiguous gene deletions: a narrative review of genetics, clinical phenotype, neurodevelopmental features, diagnosis, and multidisciplinary management
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Halting muscular dystrophy with a ‘backup’ protein
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