Article

Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the <i>All of Us</i> Research Program Cohort

2025-02-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Phenotype-based ascertainment of probands in studies of Mendelian disorders may exclude individuals with mild phenotypes or that lack health care access. We explore this premise in All of Us Research Program participants with pathogenic variation causal for three Mendelian conditions: autosomal dominant polycystic kidney disease (ADPKD), Marfan syndrome, and neurofibromatosis...

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Literature Corpus work: 716b296f-71ef-5b1d-999f-b50e8898a483
DOI: 10.1101/2025.02.26.25322940

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