T-box genes and congenital heart/limb malformations

Clinical Genetics
D IsphordingH-G Simon

Abstract

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.

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Feb 24, 2010·Indian Journal of Pediatrics·Shubha R Phadke, V H Sankar
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Nov 19, 2015·Frontiers in Oncology·Kathrin Fischer, Gert O Pflugfelder

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