Recurrent 17q12 microduplications contribute to renal disease but not diabetes

BACKGROUND: 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based cohort. METHODS: We investigated 17q12 CNV using microarray data from 450 993 individuals in the UK Bio...

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Detalles Bibliográficos
Autores principales: Cannon, Stuart, Clissold, Rhian, Sukcharoen, Kittiya, Tuke, Marcus, Hawkes, Gareth, Beaumont, Robin N, Wood, Andrew R, Gilchrist, Mark, Hattersley, Andrew T, Oram, Richard A, Patel, Kashyap, Wright, Caroline, Weedon, Michael N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Copy-Number Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176419/
https://www.ncbi.nlm.nih.gov/pubmed/36109160
http://dx.doi.org/10.1136/jmg-2022-108615

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