T-box genes and congenital heart/limb malformations

D. Isphording, A. M. Leylek, J. Yeung, A. Mischel, Hans Georg Simon*

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review

11 Scopus citations


Congenital malformations cause significant morbidity and mortality; however, the underlying basis for many of these developmental defects is not well understood. Over the past years, a new family of genes called T-box genes has been identified that play essential roles during the development of various tissues and organs. A number of developmental syndromes have recently been shown to be linked to mutations in T-box genes, and brought direct medical relevance to their study. This review emphasizes emerging data on the molecular, cell, and disease levels, which establish a basis for parallel events in limb and heart development, and suggests that common regulatory pathways are crucial for proper differentiation and growth of these embryonic structures.

Original languageEnglish (US)
Pages (from-to)no
JournalClinical Genetics
Issue number4
StatePublished - Oct 2004


  • ACTH deficiency
  • CPX
  • DGS
  • HOS
  • SPS
  • Tbx1
  • Tbx19
  • Tbx22
  • Tbx3
  • Tbx4
  • Tbx5
  • UMS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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