Starch thickening of human milk is ineffective in reducing the gastroesophageal reflux in preterm infants: A crossover study using intraluminal impedance
This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1β gene (HNF-1β or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1β mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.