Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Author:

Ghouzzi Vincent El,Merrer Martine Le,Perrin-Schmitt Fabienne,Lajeunie Elisabeth,Benit Paule,Renier Dominique,Bourgeois Patrice,Bolcato-Bellemin Anne-Laure,Munnich Arnold,Bonaventure Jacky

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference29 articles.

1. Reardon, W. & Winter, R.M. Saethre-Chotzen syndrome. J. Med. Genet. 31, 393–396 (1994).

2. Brueton, L.A>, Van Herwerden, L.,, Chotai, K.A. & Winter, R.M. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J. Med. Genet. 29, 681–685 (1992).

3. Van Herwerden, L. et al. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am. J. Med. Genet. 54, 669–674 (1994).

4. Lewanda, A.F. et al. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19, 115–119 (1994).

5. Lewanda, A.F. et al. Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. Am. J. Hum. Genet. 55, 1195–1201 (1994).

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