Ontology highlight
ABSTRACT:
SUBMITTER: Suliman SG
PROVIDER: S-EPMC2780873 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Diabetes 20090831 12
<h4>Objective</h4>Digenic causes of human disease are rarely reported. Insulin via its receptor, which is encoded by INSR, plays a key role in both metabolic and growth signaling pathways. Heterozygous INSR mutations are the most common cause of monogenic insulin resistance. However, growth retardation is only reported with homozygous or compound heterozygous mutations. We describe a novel translocation [t(7,19)(p15.2;p13.2)] cosegregating with insulin resistance and pre- and postnatal growth de ...[more]