NRG1 variant effects in patients with Hirschsprung disease.

. GunadiNova Yuli Prasetyo BudiRaman SethiAditya Rifqi FauziAlvin Santoso KalimTaufik IndrawanKristy IskandarAkhmad MakhmudiIndra AdriantoLai Poh San

Published in: BMC pediatrics (2018)

This study is the first report of a NRG1 rare variant associated with HSCR patients of South-East Asian ancestry and provides further insights into the contribution of NRG1 in the molecular genetic pathogenesis of HSCR.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
genome wide