A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe


BACKGROUND Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe. CASE PRESENTATION After an uneventful pregnancy and birth, a male newborn of consanguineous… (More)
DOI: 10.1186/s12876-015-0316-0


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