Article
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
American journal of medical genetics. Part A - 1 Nov 2025
Woods E, Holmes N, Denommé-Pichon A S, Vincent M, Belova N, Gooch C, Isidor B, Ockeloen C W, Pavlidou E, Stewart H, Verhoeven V J M, Ververi A, Dixit A, Sarkar A, Legg R, Reid E, Balasubramanian M
Abstract excerpt
Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi-natural history data-from multiple individuals of different ages-provides an alternative approach. A detailed genotype-phenotype analysis...
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