Discordant endocrinopathy in a sibling with shwachman-diamond syndrome

J Trop Pediatr. 2006 Dec;52(6):445-7. doi: 10.1093/tropej/fml050. Epub 2006 Oct 19.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Marrow Diseases / genetics
  • Bone and Bones / abnormalities
  • Child
  • Diabetes Mellitus / etiology
  • Exocrine Pancreatic Insufficiency / complications
  • Exocrine Pancreatic Insufficiency / diagnostic imaging
  • Exocrine Pancreatic Insufficiency / genetics*
  • Female
  • Genes, Recessive
  • Hepatitis, Chronic / etiology
  • Humans
  • Male
  • Neutropenia / etiology
  • Radiography
  • Siblings
  • Syndrome