The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
about
Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Inversion variants in the human genome: role in disease and genome architectureInversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis.Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.Characterizing polymorphic inversions in human genomes by single-cell sequencing.Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further CharacterisationDiffering Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.A Loss or a Gain, Is It Not All the Same?7q11.23 Duplication syndrome: Physical characteristics and natural history.
P2860
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P2860
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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name
The common inversion of the Wi ...... s not cause clinical symptoms.
@en
The common inversion of the Wi ...... s not cause clinical symptoms.
@nl
type
label
The common inversion of the Wi ...... s not cause clinical symptoms.
@en
The common inversion of the Wi ...... s not cause clinical symptoms.
@nl
prefLabel
The common inversion of the Wi ...... s not cause clinical symptoms.
@en
The common inversion of the Wi ...... s not cause clinical symptoms.
@nl
P2093
P2860
P356
P1476
The common inversion of the Wi ...... s not cause clinical symptoms.
@en
P2093
Carolyn B Mervis
Christian R Marshall
Edwin J Young
Elaine Tam
Lucy R Osborne
P2860
P304
P356
10.1002/AJMG.A.32360
P407
P577
2008-07-01T00:00:00Z