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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Detalhes bibliográficos
Main Authors: MacDonald, Simon T., Bamforth, Simon D., Chen, Chiann-Mun, Farthing, Cassandra R., Franklyn, Angela, Broadbent, Carol, Schneider, Jürgen E., Saga, Yumiko, Lewandoski, Mark, Bhattacharya, Shoumo
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2492730/
https://ncbi.nlm.nih.gov/pubmed/18440989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/cvr/cvn101
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