Two sisters with different chromosomal microdeletions: Rubinstein - Taybi syndrome and 22q deletion syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1998.5440422.x/fullpdf
Reference3 articles.
1. Rubinstein-Taybi syndrome with thymic hypoplasia;Kimura;Am J Med Genet,1993
2. Submicroscobic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population;Wallerstein;J Med Genet,1997
3. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP;Petrij;Nature,1995
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot;American Journal of Medical Genetics Part A;2013-08-16
2. Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects;American Journal of Medical Genetics Part A;2005
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