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Related Experiment Videos

VACTERL with the mitochondrial np 3243 point mutation

M S Damian1, P Seibel, W Schachenmayr

  • 1Department of Neurology, University of Giessen, Germany.

American Journal of Medical Genetics
|April 24, 1996
PubMed
Summary

A mitochondrial DNA mutation is linked to VACTERL association, a congenital disorder. This finding provides a molecular basis for VACTERL and suggests new phenotypes for the mutation.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Mitochondrial Biology

Background:

  • VACTERL association is a common congenital disorder with unknown causes.
  • Limb deficiency in VACTERL arises during early embryonic development (blastogenesis).
  • Previous research suggested a heterogeneous cause for VACTERL, lacking a defined molecular basis.