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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Dades bibliogràfiques
Publicat a:Kidney Int
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Clinical Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4915913/
https://ncbi.nlm.nih.gov/pubmed/27234567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2016.03.027
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