TY  - ADVS
AU  - Osborne,Lucy R.
TI  - Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes 
T2  - Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
PY  - 2009///
CY  - London
PB  - Henry Stewart Talks
KW  - Gene Dosage
KW  - Genetic Variation
KW  - Genotype
KW  - Phenotype
KW  - Williams Syndrome
KW  - genetics
N1  - Animated audio-visual presentation with synchonized narration; Title from title frames; Contents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS; Access restricted to subscribers
UR  - https://hstalks.com/bs/1401/
UR  - https://hstalks.com/bs/p/439/
ER  -