Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by moderate intellectual disability and learning difficulties alongside behavioral abnormalities such as hypersociability. Several structural and functional brain alterations are characteristic of this syndrome, as well as disturbed...
Williams-Beuren syndrome (WBS), an autosomal dominant genetic disorder, is characterized by a unique cognitive profile and craniofacial defects. WBS results from a microdeletion at the chromosomal location 7q11.23 that encompasses the genes encoding the members of TFII-I family of transcription factors...
GTF 2 IRD 1 in craniofacial development of humans and mice [J]. Science, 2005,310(5751):1184-1187. DOI: 10.1126/science.1116142 . 返回引文位置Google Scholar 百度学术 万方数据 [19] Edelmann L , Prosnitz A , Pardo S ,et al. An atypical deletion of the Williams-Beuren syndrome interval...
syndrome is a contiguous gene deletion syndrome: deletion or alteration of specific genes in the deleted region corresponds with specific clinical features in a one-to-one correlation. For example, the elastin gene maps into the deleted region. Deletion of one copy of the elastin gene causes the...
Consistently, analysis of MID1 (TRIM18) mutations detected in Opitz syndrome patients demon- strated the importance of the RFP-like domain in the proper localization of the protein.58,65 In conclusion, the present report increases the number of identified genes mapping within the region commonly ...
HumansAortic Valve StenosisSyndromeHypercalcemiaAutistic DisorderChild, PreschoolInfantMaleNo abstract is available for this article.doi:10.1002/ajmg.1320530118Angela GoschRainer PankauJohn Wiley & Sons, Ltd.American Journal of Medical GeneticsGosch, A., Pankau, R., 1994. Autistic behavior in two ...
3 Ferrero GB, Howald C, Micale L et al: An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet 2010; 18: 33–38. 4 Wechsler D: Manual for the Wechsler intelligence scale for Children. New York: Psychological Corporation, 1991. 5 Roid G, Miller...
Williams- Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes. J Biol Chem 284:36234-9.Lazebnik, M. B., Tussie-Luna, M. I., Hinds, P. W., and Roy, A. L. (2009). Williams- Beuren syndrome-associated transcription factor TFII-I regulates osteogenic ...
It can not be seen on a conventional karyotype and is detected by a FISH (fluorescent in situ hybridization) analyse. This microdeletion leads to the suppression of many genes, mainly the elastin gene. 展开 关键词: Humans Chromosomes, Human, Pair 7 Williams Syndrome Echocardiography Adult Child...
pathology of Williams–Beuren Syndrome Cesar P Canales1, Ann CY Wong2, Peter W Gunning1, Gary D Housley2, Edna C Hardeman1 and Stephen J Palmer*,1 Williams–Beuren Syndrome (WBS) is a rare genetic condition caused by a hemizygous deletion involving up to 28 genes within chromosome 7q...