Flaminia Pugnaloni, Ludovica Martini, Domenico Umberto De Rose, Francesca Landolfo, Paola Giliberti, Rosario Ruta, Antonio Novelli, Novella Rapini, Fabrizio Barbetti, Alessandra Toscano, Andrea Conforti, Pietro Bagolan, Irma Capolupo, Andrea Dotta
INTRODUCTION: GATA6 is a gene that encodes a transcription factor with a key role in the development of several organ systems, including the development of the pancreas. It is associated with neonatal diabetes but also with other extra-pancreatic anomalies. CASE PRESENTATION: This report describes the association of tracheoesophageal fistula (TEF), pulmonary vein stenosis (PVS), and neonatal diabetes caused by a novel mutation of the GATA6 gene in a small-for-gestational-age male neonate born at 32 weeks of gestation...
April 4, 2024: Hormone Research in Pædiatrics