Article

A national diagnostic framework for patients with ultra-rare disorders: molecular genetic findings using phenotypic and sequencing data

2022-03-15

Abstract excerpt

<title>Abstract</title> <p>Most individuals with rare diseases first contact primary care physicians. Although efficient diagnostic routines exist for a subset of rare diseases, ultra-rare entities often require expert clinical knowledge or comprehensive genetic diagnostics, which poses structural challenges to public healthcare systems. To address these challenges, a novel structured diagnostic concept based on...

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Literature Corpus work: bf8d17ba-c77a-59b3-aa9a-e39d28c89e21
DOI: 10.21203/rs.3.rs-1416633/v1

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