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- BEUREN A. J., APITZ J., HARMJANZ D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962 Dec;26:1235–1240. doi: 10.1161/01.cir.26.6.1235. [DOI] [PubMed] [Google Scholar]
- Buetow K. H., Weber J. L., Ludwigsen S., Scherpbier-Heddema T., Duyk G. M., Sheffield V. C., Wang Z., Murray J. C. Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet. 1994 Apr;6(4):391–393. doi: 10.1038/ng0494-391. [DOI] [PubMed] [Google Scholar]
- Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
- Fazio M. J., Mattei M. G., Passage E., Chu M. L., Black D., Solomon E., Davidson J. M., Uitto J. Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet. 1991 Apr;48(4):696–703. [PMC free article] [PubMed] [Google Scholar]
- Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
- Jones K. L., Smith D. W. The Williams elfin facies syndrome. A new perspective. J Pediatr. 1975 May;86(5):718–723. doi: 10.1016/s0022-3476(75)80356-8. [DOI] [PubMed] [Google Scholar]
- Morris C. A., Demsey S. A., Leonard C. O., Dilts C., Blackburn B. L. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988 Aug;113(2):318–326. doi: 10.1016/s0022-3476(88)80272-5. [DOI] [PubMed] [Google Scholar]
- Morris C. A., Thomas I. T., Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet. 1993 Sep 15;47(4):478–481. doi: 10.1002/ajmg.1320470409. [DOI] [PubMed] [Google Scholar]
- WILLIAMS J. C., BARRATT-BOYES B. G., LOWE J. B. Supravalvular aortic stenosis. Circulation. 1961 Dec;24:1311–1318. doi: 10.1161/01.cir.24.6.1311. [DOI] [PubMed] [Google Scholar]