Significats de williams-beuren syndrome en anglès

The reciprocal deletion of this region causes Williams-Beuren syndrome.

The phenotype was confirmed in iPSC-SMCs generated from a patient with deletion of elastin owing to Williams-Beuren syndrome.

Background: the speech fluency pattern attributed to individuals with Williams-Beuren syndrome (WBS) is supported by the effectiveness of the phonological loop.

Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ.

Our findings extend the general principle of component sharing among divergent nuclear processes and implicate TLS deficiency as a possible contributing factor in Williams-Beuren syndrome.

Method: Twelve subjects with Williams-Beuren syndrome, chronologically aged between 6.6 and 23.6 years and mental age ranging from 4.8 to 14.3 years, were evaluated.