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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492730/
https://www.ncbi.nlm.nih.gov/pubmed/18440989
http://dx.doi.org/10.1093/cvr/cvn101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492730/
https://www.ncbi.nlm.nih.gov/pubmed/18440989
http://dx.doi.org/10.1093/cvr/cvn101

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