Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH-Reference-Cited by-同舟云学术

Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

Published:2019-04-08 Issue:2 Volume:98 Page:
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

Ramírez-Velazco Azubel^ORCID,Aguayo-Orozco Thania Alejandra^ORCID,Figuera Luis^ORCID,Rivera Horacio^ORCID,Jave-Suárez Luis^ORCID,Aguilar-Lemarroy Adriana^ORCID,Torres-Reyes Luis A.^ORCID,Córdova-Fletes Carlos^ORCID,Barros-Núñez Patricio^ORCID,Delgadillo-Pérez Saturnino^ORCID,Dávalos-Rodríguez Ingrid Patricia^ORCID,García-Ortiz José Elías^ORCID,Domínguez María G.^ORCID

Funder

Instituto Mexicano del Seguro Social

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/content/pdf/10.1007/s12041-019-1080-7.pdf

Reference26 articles.

1. Borg I., Delhanty J. D. A. and Baraitser M. 1995 Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. Med. Genet. 32, 692–696.

2. Collins R. T., Kaplan P., Somes G. W. and Rome J. J. 2010 Long-term out comes of patients with cardiovascular abnormalities and Williams syndrome. Am. J. Cardiol. 105, 874–878.

3. Committee on Genetics. 2001 American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 107, 1192–1204.

4. Delio M., Pope K., Wang T., Samanich J., Haldeman-Englert C., Kaplan P. et al. 2013 Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome. Am. J. Med. Gen. A. 161, 527–533.

5. Dutra R. L., Honjo R. S., Kulikowski L. D., Fonseca F. M., Pieri P. C., Jehee F. S. et al. 2012 Copy number variation in Williams–Beuren syndrome: suitable diagnostic strategy for developing countries. BMC. Res. Notes 5, 13.

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