Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome

J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):115-6. doi: 10.1097/01.mpg.0000155184.61625.fc.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / genetics
  • Child, Preschool
  • Exocrine Pancreatic Insufficiency / genetics*
  • Exons
  • Failure to Thrive / etiology
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Humans
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*
  • Portugal
  • Syndrome