An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

Caronia, G., Goodman, F. R., McKeown, C. M. E., Scambler, P. J. and Zappavigna, V. Development 130, 1701-1712.

While this article was in press, a phenotype similar to that described, caused by an identical mutation, was identified by Johnson et al. in two further families from the south-east of England (Johnson et al., 2003Go). Microsatellite genotyping showed that the affected individuals from all three families share the same haplotype across the HOXD cluster region, suggesting that the mutation arose in a common ancestor (F.R.G., unpublished).

The authors apologise to readers for this omission.

REFERENCES

Johnson, D., Kan, S., Oldridge, M., Trembath, R. C., Roche, P., Esnouf, R. M., Giele, H. and Wilkie, A. O. M. (2003). Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am. J. Hum. Genet. (in press).





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