Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants

Pediatr Blood Cancer. 2023 Jun;70(6):e30250. doi: 10.1002/pbc.30250. Epub 2023 Feb 13.
No abstract available

Publication types

  • Letter

MeSH terms

  • DNA Helicases
  • Dyskeratosis Congenita*
  • Female
  • Fetal Growth Retardation
  • Humans
  • Infant, Newborn
  • Intellectual Disability*
  • Intestinal Obstruction*
  • Microcephaly*
  • Mutation

Substances

  • RTEL1 protein, human
  • DNA Helicases

Supplementary concepts

  • Hoyeraal Hreidarsson syndrome