The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Alexander J Hamilton; Coralie Bingham; Timothy J McDonald; Paul R Cook; Richard C Caswell; Michael N Weedon; Richard A Oram; Beverley M Shields; Maggie Shepherd; Carol D Inward; Julian P Hamilton-Shield; Jürgen Kohlhase; Sian Ellard; Andrew T Hattersley

doi:10.1136/jmedgenet-2013-102066

Article info

PDF

PDF +
Supplementary
Material

Genotype-phenotype correlations

Short report

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Authors

Alexander J Hamilton Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK Renal Unit, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK PubMed articles Google scholar articles
Coralie Bingham Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK Renal Unit, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK PubMed articles Google scholar articles
Timothy J McDonald Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Paul R Cook University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, UK PubMed articles Google scholar articles
Richard C Caswell Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Michael N Weedon Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Richard A Oram Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Beverley M Shields Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Maggie Shepherd Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Carol D Inward Bristol Royal Hospital for Children, Bristol, UK PubMed articles Google scholar articles
Julian P Hamilton-Shield Bristol Royal Hospital for Children, Bristol, UK UBHT Education Centre, University of Bristol, Bristol, UK PubMed articles Google scholar articles
Jürgen Kohlhase Center for Human Genetics, Freiburg, Germany PubMed articles Google scholar articles
Sian Ellard Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles
Andrew T Hattersley Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK PubMed articles Google scholar articles

Correspondence to Professor Andrew T Hattersley, NIHR Clinical Research Facility, University of Exeter Medical School, Barrack Road, Exeter, Devon EX2 5DW, UK; a.t.hattersley{at}exeter.ac.uk

View Full Text

Citation

Hamilton AJ, Bingham C, McDonald TJ, et al

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Journal of Medical Genetics 2014;51:165-169.

Publication history

Received September 24, 2013
Revised October 22, 2013
Accepted October 23, 2013
First published November 27, 2013.

Online issue publication

February 13, 2017

Article Versions

Previous version (27 April 2016).
You are viewing the most recent version of this article.

Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Files in this Data Supplement:

Data supplement 1 - Online supplement
Data supplement 2 - Online tables

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions 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/

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Supplementary Data

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password