Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.
Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. roz.simms@ncl.ac.uk
R J
RJ
Simms
J A
JA
Sayer
R
R
Quinton
M
M
Walker
S
S
Ellard
T H J
TH
Goodship
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005836:Genitalia, Female / Q000002:abnormalities; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha