Article

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

2023-04-25

Abstract excerpt

Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensive genetic diagnostics, which poses structural challenges for public healthcare systems. To address these challenges within Germany, a novel structured diagnostic conce...

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Literature Corpus work: 8e8be73f-6440-5a8c-8908-d23f1c144a8c
DOI: 10.1101/2023.04.19.23288824

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