Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.
Maria Giovanna PagliettiClaudio CherchiFederica PorcaroEmanuele AgoliniAlessandra SchiavinoFrancesca PetreschiAntonio NovelliRenato CutreraPublished in: Italian journal of pediatrics (2019)
Data are retrospectively collected.