A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome

Guzoglu N., Aslan M. K., Gunay Y. D., Atasoy P., CEYLANER S., Aliefendioglu D.

Clinical Dysmorphology, vol.29, pp.152-154, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29
  • Publication Date: 2020
  • Doi Number: 10.1097/mcd.0000000000000317
  • Journal Name: Clinical Dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.152-154
  • Keywords: Congenital central hypoventilation syndrome, Newborn, Total intestinal aganglionosis
  • Lokman Hekim University Affiliated: No