Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse a...

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Detalles Bibliográficos
Autores principales: Chan, Melanie MY, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512401/
https://www.ncbi.nlm.nih.gov/pubmed/36124557
http://dx.doi.org/10.7554/eLife.74777

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