Recent developments in paediatric gastrointestinal surgery have focused on minimally
invasive surgery, the accumulation of high-quality clinical evidence, and scientific research …

Background Hirschsprung disease (HSCR), which is congenital obstruction of the bowel,
results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate …

QT interval variation is assumed to arise from variation in repolarization as evidenced from
rare Na-and K-channel mutations in Mendelian QT prolongation syndromes. However, in the …

Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in
approximately 2–2.8 in 10,000 newborns. It is the commonest form of congenital bowel …

Advances in sequencing technology have significantly expanded our understanding of the
genetics of autism and neurodevelopmental disorders (NDDs). Continued technological …

Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of
enteric neurons, which is derived from the failure of the proliferation, differentiation or …

Background/purpose Understanding the true nature of the disease provided the basis for
appropriate surgery for Hirschsprung's disease some 60 years ago. Nevertheless, surgical …

The role of rare genetic variation in the etiology of complex disease remains unclear.
However, the development of next-generation sequencing technologies offers the …

Background & Aims Hirschsprung disease, or congenital aganglionosis, is believed to be
oligogenic—that is, caused by multiple genetic factors. We performed whole-genome …

Insights into the role of microRNAs (miRNAs) in disease pathogenesis have made them
attractive therapeutic targets, and numerous miRNAs have been functionally linked to …