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Exploring new gene-disease associations in polycystic kidney disease: a case report highlighting the importance of a precise genomic diagnosis

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Excerpt

A 31-year-old woman of Irish-Scottish descent was referred to our genetics clinic for consideration of diagnostic genomic testing. …
Title
Exploring new gene-disease associations in polycystic kidney disease: a case report highlighting the importance of a precise genomic diagnosis
Authors
Gemma Scholes
Yael Prawer
Jessica Ryan
Kunal Verma
Kushani Jayasinghe
Publication date
09-10-2024
Publisher
Springer International Publishing
Published in
Journal of Nephrology / Issue 2/2025
Print ISSN: 1121-8428
Electronic ISSN: 1724-6059
DOI
https://doi.org/10.1007/s40620-024-02113-4
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