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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...
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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
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Materias: | |
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 |
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