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Science 18 November 2005:
Vol. 310. no. 5751, p. 1085
DOI: 10.1126/science.310.5751.1085i
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This Week in Science

In humans, Williams-Beuren syndrome (WBS) results from a chromosomal deletion that usually removes 28 genes. The mutation affects craniofacial development and some aspects of cognitive and social development. Patients with WBS may be characterized by over-friendliness as well as by deficient numerical abilities. Tassabehji et al. (p. 1184, published online 3 November) have now analyzed the chromosomal disruption responsible for WBS in one patient. The results, which are supported by parallel analyses in mice, identify the gene GTF2IRD1 in the WBS region as critical for the craniofacial defects.




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Science. ISSN 0036-8075 (print), 1095-9203 (online)