Login / Signup

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 Cutrera
Published in: Italian journal of pediatrics (2019)
Data are retrospectively collected.
Keyphrases
  • electronic health record
  • copy number
  • genome wide
  • case report
  • genome wide identification
  • gene expression
  • data analysis
  • transcription factor
  • genome wide analysis