Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?

Am J Med Genet A. 2008 Aug 1;146A(15):2001-4. doi: 10.1002/ajmg.a.32371.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Breast / abnormalities*
  • Female
  • Frameshift Mutation
  • Genitalia, Female / abnormalities*
  • Genotype
  • Gonadal Dysgenesis / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Limb Deformities, Congenital / genetics*
  • Phenotype
  • Syndrome
  • Trans-Activators / genetics
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics

Substances

  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins