Williams–Beuren Syndrome
- 21 January 2010
- journal article
- review article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 362 (3), 239-252
- https://doi.org/10.1056/nejmra0903074
Abstract
Williams–Beuren syndrome, a multisystem disorder caused by the deletion of a chromosome region of 1.5 million to 1.8 million base pairs containing 26 to 28 genes, is a disorder of microdeletion or contiguous gene deletion. This review covers current understanding of the biology of this disorder.Keywords
This publication has 85 references indexed in Scilit:
- Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in miceEMBO Molecular Medicine, 2009
- Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11American Journal of Human Genetics, 2008
- The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptomsAmerican Journal of Medical Genetics Part A, 2008
- Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndromeJCI Insight, 2008
- Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletionGenome Research, 2008
- New height, weight and head circumference charts for British children with Williams syndromeArchives of Disease in Childhood, 2007
- Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking GenesAmerican Journal of Human Genetics, 2006
- Prevalence of psychiatric disorders in 4 to 16‐year‐olds with Williams syndromeNeuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG), 2006
- Natural history of Williams syndrome: Physical characteristicsThe Journal of Pediatrics, 1988
- Impaired calcitonin secretion in patients with Williams syndromeThe Journal of Pediatrics, 1985