The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
about
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in developmentThe segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.
P2860
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
description
2002 nî lūn-bûn
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The elastin gene is disrupted in a family with a balanced translocation t
@nl
The elastin gene is disrupted ...... the Williams-Beuren syndrome.
@en
type
label
The elastin gene is disrupted in a family with a balanced translocation t
@nl
The elastin gene is disrupted ...... the Williams-Beuren syndrome.
@en
prefLabel
The elastin gene is disrupted in a family with a balanced translocation t
@nl
The elastin gene is disrupted ...... the Williams-Beuren syndrome.
@en
P2093
P2860
P356
P1476
The elastin gene is disrupted ...... f the Williams-Beuren syndrome
@en
P2093
Christian Mann
Gerd Utermann
Hans-Christoph Duba
Ignaz Hammerer
Karl-Heinz Grzeschik
Martin Erdel
Michael Neyer
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5200812
P50
P577
2002-06-01T00:00:00Z