INVESTIGADORES
BERGADÁ Ignacio
congresos y reuniones científicas
Título:
Identification of a Novel Insulin Receptor Gene Mutation in Patient with Type A Insulin Resistance Syndrome
Autor/es:
FREIRE AV; SCAGLIA P.; GRYNGARTEN M.; ARCARI A.; SUAREZ L.; GUTIÉRREZ M.; BALLERINI M.G.; VALINOTTO L.; NATALE M.; BERGADÁ I.; REY R.; ROPELATO M.G.
Lugar:
Washington
Reunión:
Congreso; 10th International Meeting of Pediatric Endocrinology; 2017
Resumen:
Hyperandrogenism, acanthosis nigricans (AN) and severe insulin resistance in the absence of obesity clinically define Type A IR syndrome. Most cases of this syndrome are due to mutations in the insulin receptor gene (INSR) or its signaling pathway.
