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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 …
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.