Article Text

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}

Statistics from

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 …

View Full Text

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.