Atypical Deletion in Williams–Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

Rachel Sayuri Honjo; Roberta Lelis Dutra; Michele Moreira Nunes; Israel Gomy; Leslie Domenici Kulikowski; Fernanda Sarquis Jehee; Chong Ae Kim

doi:10.1016/j.jgg.2012.07.001

Volume 39 Issue 10

Oct. 2012

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Atypical Deletion in Williams–Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

doi: 10.1016/j.jgg.2012.07.001

a
Clinical Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Enéas Carvalho Aguiar, 647, 05403-900 São Paulo, SP, Brazil
b
Department of Pathology, Laboratório de Citogenômica, LIM 03, Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Enéas Carvalho de Aguiar, 155, 2° andar, bloco 12, sala 705403-000 São Paulo, SP, Brazil

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Corresponding author: E-mail address: rachel.honjo@gmail.com (Rachel Sayuri Honjo)
Received Date: 2012-02-06
Accepted Date: 2012-07-09
Rev Recd Date: 2012-06-23

Available Online: 2012-07-30

Publish Date: 2012-10-20

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References

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