Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis

Genet Couns. 2007;18(2):259-62.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Aged
  • Chromosome Aberrations
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / genetics*
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Carrier Screening*
  • Homeodomain Proteins / genetics*
  • Humans
  • Karyotyping
  • LIM-Homeodomain Proteins
  • Male
  • Middle Aged
  • Nail-Patella Syndrome / diagnosis
  • Nail-Patella Syndrome / genetics*
  • Pyrin
  • Talus / abnormalities
  • Transcription Factors / genetics*

Substances

  • Cytoskeletal Proteins
  • Homeodomain Proteins
  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • MEFV protein, human
  • Pyrin
  • Transcription Factors