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Thesis

Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency

Abstract:

ABSTRACT

Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are the major cause of mortality. Other defects are cleft palate, thymus hypoplasia, inner ear defects and neuropsychiatric abnormalities. Df(16)1 mice carry a ~1 Mb hemizygous deletion on mouse chromosome 16 in a region syntenic with...

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Institution:
University of Oxford
Research group:
S. Bhattacharya
Oxford college:
Exeter College
Role:
Author

Contributors

Division:
MSD
Role:
Supervisor
Division:
MSD
Role:
Supervisor
More from this funder
Funding agency for:
De Mesmaeker, J
Publication date:
2012
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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