Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Amino Acid Sequence
  • Child
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Neutropenia / congenital*
  • Neutropenia / diagnosis
  • Neutropenia / genetics*
  • Pedigree
  • Severity of Illness Index

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human