@article{6d3364f240f34d94a072924722423c3f,
title = "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis",
abstract = "Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome 5qter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine substitutes for a highly conserved proline at position 7 of the MSX2 homeodomain exclusively in affected members. In the mouse, transcripts of the Msx2 gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome.",
author = "Jabs, {Ethylin Wang} and Ulrich M{\"u}ller and Xiang Li and Liang Ma and Wen Luo and Haworth, {Ian S.} and Ivana Klisak and Robert Sparkes and Warman, {Matthew L.} and Mulliken, {John B.} and Snead, {Malcolm L.} and Rob Maxson",
note = "Funding Information: The work was supported by National Institutes of Health grants DE10180, HD24061, RR00052, and RR00722 to E. W. J.; DE06988 to M. L. S.; and DE09165 and HD22416 to R. M. We thank Dr. Deborah A. Meyers and Eugene W. Taylor (Johns Hopkins University) for performing the linkage analysis, Michele Beloff and Juan Chen for technical assistance, and Dr. Alan F. Scott for helpful discussions. We are grateful to Dr. Charles E. Jackson, who was supported by the Dykstra Foundation of Michigan (DFM), for his clinical assessment of and for samples from the Jackson-Weiss syndrome family. M. L. W. is grateful to Prof. B. R. Olsen for advice and support. U. M. was supported by the DFG. We thank Drs. Haig H. Kazazian, M. Michael Cohen, Dan Broek, Larry Kedes, and Harold Slavkin for critical reading of this manuscript.",
year = "1993",
month = nov,
day = "5",
doi = "10.1016/0092-8674(93)90379-5",
language = "English",
volume = "75",
pages = "443--450",
journal = "Cell",
issn = "0092-8674",
number = "3",
}