Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described

Nefrologia. 2013;33(4):585-6. doi: 10.3265/Nefrologia.pre2013.Apr.12006.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • LIM-Homeodomain Proteins / genetics*
  • Mutation*
  • Nail-Patella Syndrome / genetics*
  • Phenotype
  • Transcription Factors / genetics*

Substances

  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • Transcription Factors