The reciprocal deletion of this region causes Williams-Beurensyndrome.
2
The phenotype was confirmed in iPSC-SMCs generated from a patient with deletion of elastin owing to Williams-Beurensyndrome.
3
Background: the speech fluency pattern attributed to individuals with Williams-Beurensyndrome (WBS) is supported by the effectiveness of the phonological loop.
4
Reciprocal duplication of the Williams-Beurensyndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ.
5
Our findings extend the general principle of component sharing among divergent nuclear processes and implicate TLS deficiency as a possible contributing factor in Williams-Beurensyndrome.
6
Method: Twelve subjects with Williams-Beurensyndrome, chronologically aged between 6.6 and 23.6 years and mental age ranging from 4.8 to 14.3 years, were evaluated.