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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2008
Gaiak:
Original Articles
Sarrera elektronikoa: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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