Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.

AIMS: Deletion of the transcription factor Cited2 causes penetrant and phenotypically heterogenous cardiovascular and laterality defects and adrenal agenesis. Heterozygous human CITED2 mutation is associated with congenital heart disease, suggesting haploinsufficiency. Cited2 functions partly via a...

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Bibliographic Details
Main Authors: MacDonald, S, Bamforth, S, Chen, C, Farthing, C, Franklyn, A, Broadbent, C, Schneider, J, Saga, Y, Lewandoski, M, Bhattacharya, S
Format: Conference item
Published: 2008

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