Clinical utility gene card for: 16p13.11 microdeletion syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013230.pdf
Reference21 articles.
1. Martin J, Han C, Gordon LA et al: The sequence and analysis of duplication-rich human chromosome 16. Nature 2004; 432: 988–994.
2. Ingason A, Rujescu D, Cichon S et al: Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 2011; 16: 17–25.
3. Ullmann R, Turner G, Kirchhoff M et al: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007; 28: 674–682.
4. Hannes FD, Sharp AJ, Mefford HC et al: Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2009; 46: 223–232.
5. Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW : De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency. BJOG 2009; 116: 339–343.
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