Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 additional genes. This 17q12 deletion has been linked with an increased risk of ne...

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Detalles Bibliográficos
Autores principales: Clissold, Rhian L., Shaw-Smith, Charles, Turnpenny, Peter, Bunce, Benjamin, Bockenhauer, Detlef, Kerecuk, Larissa, Waller, Simon, Bowman, Pamela, Ford, Tamsin, Ellard, Sian, Hattersley, Andrew T., Bingham, Coralie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Clinical Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915913/
https://www.ncbi.nlm.nih.gov/pubmed/27234567
http://dx.doi.org/10.1016/j.kint.2016.03.027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915913/
https://www.ncbi.nlm.nih.gov/pubmed/27234567
http://dx.doi.org/10.1016/j.kint.2016.03.027

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