dc.contributor.author | Hamilton, Alexander | |
dc.contributor.author | Bingham, Coralie | |
dc.contributor.author | McDonald, TJ | |
dc.contributor.author | Cook, PR | |
dc.contributor.author | Caswell, Richard | |
dc.contributor.author | Weedon, Michael N. | |
dc.contributor.author | Oram, RA | |
dc.contributor.author | Shields, BM | |
dc.contributor.author | Shepherd, Maggie H. | |
dc.contributor.author | Inward, CD | |
dc.contributor.author | Hamilton-Shield, JP | |
dc.contributor.author | Kohlhase, J | |
dc.contributor.author | Ellard, Sian | |
dc.contributor.author | Hattersley, Andrew T. | |
dc.date.accessioned | 2014-02-06T12:05:18Z | |
dc.date.issued | 2013-11-27 | |
dc.description.abstract | Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cause has been defined. | en_GB |
dc.description.sponsorship | This article presents independent research supported by the National Institute for Health Research (NIHR) Exeter Clinical Research Facility. The research is funded by a Wellcome Trust Senior Investigator Award, (grant number 098395/Z/12/Z). | en_GB |
dc.description.sponsorship | Wellcome Trust | en_GB |
dc.identifier.citation | Journal of Medical Genetics, 2013, Nov 27 | en_GB |
dc.identifier.doi | 10.1136/jmedgenet-2013-102066 | |
dc.identifier.other | jmedgenet-2013-102066 | |
dc.identifier.uri | http://hdl.handle.net/10871/14503 | |
dc.publisher | BMJ Publishing Group | en_GB |
dc.relation.url | http://www.ncbi.nlm.nih.gov/pubmed/24285859 | en_GB |
dc.rights | This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/ | en_GB |
dc.subject | Calcium and Bone | en_GB |
dc.subject | Clinical Genetics | en_GB |
dc.subject | Diabetes | en_GB |
dc.subject | Metabolic Disorders | en_GB |
dc.subject | Renal Medicine | en_GB |
dc.title | The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype | en_GB |
dc.date.available | 2014-02-06T12:05:18Z | |
dc.identifier.issn | 0022-2593 | |
dc.description | types: JOURNAL ARTICLE | en_GB |
dc.identifier.journal | Journal of Medical Genetics | en_GB |