Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation

QJM. 2011 Oct;104(10):881-3. doi: 10.1093/qjmed/hcq195. Epub 2010 Nov 4.

Authors

R J Simms¹, J A Sayer, R Quinton, M Walker, S Ellard, T H J Goodship

Affiliation

¹ Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. roz.simms@ncl.ac.uk

PMID: 21051477
DOI: 10.1093/qjmed/hcq195

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adult
Diabetes Mellitus, Type 2 / genetics*
Female
Frameshift Mutation*
Genitalia, Female / abnormalities
Hepatocyte Nuclear Factor 1-alpha / genetics*
Humans
Hypopituitarism / genetics*
Kidney / abnormalities*
Pedigree

Substances

HNF1A protein, human
Hepatocyte Nuclear Factor 1-alpha