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Heterozygous mutations in the T (brachyury) gene
  1. Philip F Giampietro1,
  2. Cathy L Raggio2,
  3. Robert D Blank3
  1. 1Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA
  2. 2Hospital for Special Surgery, New York, New York, USA
  3. 3Medical College of Wisconsin, Milwaukee, Wisconsin, USA
  1. Correspondence to Dr Philip F Giampietro, Department of Pediatrics, University of Wisconsin-Madison, WI 53705-9345, USA; pfgiampietro{at}

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To The Editor:

We have read the paper by Postma et al1 in the recent Journal of Medical Genetics describing a homozygous missense mutation, p.H171R T(brachyury) in three consanguineous families with sacral agenesis, persistent notochord and abnormal ossification of vertebral bodies. We would like to point out that our …

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  • Contributors All authors have been involved with this work. This is a letter to the editor in response to a recent paper in the JMG.

  • Competing interests None.

  • Provenance and peer review Not commissioned; internally peer reviewed.