References
-
1.
Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-8. [PubMed ID: 14007182].
-
2.
Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235-40. [PubMed ID: 13967885].
-
3.
Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci. 2009;66(7):1178-97. [PubMed ID: 19039520]. https://doi.org/10.1007/s00018-008-8401-y.
-
4.
Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA, et al. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. BMC Res Notes. 2012;5:13. [PubMed ID: 22226172]. https://doi.org/10.1186/1756-0500-5-13.
-
5.
Yau EK, Lo IF, Lam ST. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. Hong Kong Med J. 2004;10(1):22-7. [PubMed ID: 14967851].
-
6.
Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet. 1996;58(6):1370-3. [PubMed ID: 8651315].
-
7.
Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC, et al. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet. 2007;50(5):327-37. [PubMed ID: 17625998]. https://doi.org/10.1016/j.ejmg.2007.05.005.