Copy number variants at Williams–Beuren syndrome 7q11.23 region
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-010-0827-2.pdf
Reference230 articles.
1. American Academy of Pediatrics Committee on Genetics (2001) Health care supervision for children with Williams syndrome. Pediatrics 107:1192–1204
2. Amenta S, Sofocleous C, Kolialexi A, Thomaidis L, Giouroukos S, Karavitakis E, Mavrou A, Kitsiou S, Kanavakis E, Fryssira H (2005) Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. Pediatr Res 57:789–795
3. Antonell A, de Luis O, Domingo-Roura X, Perez-Jurado LA (2005) Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Genome Res 15:1179–1188
4. Antonell A, Del Campo M, Magano LF, Kaufmann L, Martinez de la Iglesia J, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Perez-Jurado LA (2010) Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet. doi: 10.1136/jmg.2009.071712
5. Axelsson S, Bjornland T, Kjaer I, Heiberg A, Storhaug K (2003) Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontol Scand 61:129–136
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