Duplication of the Williams-Beuren critical regi... [J Med Genet. 2008] - PubMed

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. [Genet Med. 2007]
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, et al. Genet Med. 2007 Jul; 9(7):427-41.
Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly. [Am J Med Genet A. 2008]
Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.
Merritt JL, Lindor NM. Am J Med Genet A. 2008 Apr 15; 146A(8):1055-8.
Autism and Williams syndrome: a case report. [World J Biol Psychiatry. 2006]
Autism and Williams syndrome: a case report.
Herguner S, Mukaddes NM. World J Biol Psychiatry. 2006; 7(3):186-8.
Review The genomic basis of the Williams-Beuren syndrome. [Cell Mol Life Sci. 2009]
Review The genomic basis of the Williams-Beuren syndrome.
Schubert C. Cell Mol Life Sci. 2009 Apr; 66(7):1178-97.
Review Williams-Beuren syndrome: genes and mechanisms. [Hum Mol Genet. 1999]
Review Williams-Beuren syndrome: genes and mechanisms.
Francke U. Hum Mol Genet. 1999; 8(10):1947-54.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. [Cytogenet Genome Res. 2008]
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, et al. Cytogenet Genome Res. 2008; 123(1-4):65-78. Epub 2009 Mar 11.
Review CNV and nervous system diseases--what's new? [Cytogenet Genome Res. 2008]
Review CNV and nervous system diseases--what's new?
Gu W, Lupski JR. Cytogenet Genome Res. 2008; 123(1-4):54-64. Epub 2009 Mar 11.

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Duplication of the Williams-Beuren critical region: case report and further deli...
Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.
J Med Genet. 2008 Mar ;45(3):187-9. doi: 10.1136/jmg.2007.054064.

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