Associated Papers
The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study.
Liu C et al.
Cardiology, 2025
CITED2 mutations potentially cause idiopathic premature ovarian failure.
Fonseca DJ et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
Functional significance of SRJ domain mutations in CITED2.
Chen CM et al.
Plos One, 2012
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Ferraz-de-Souza B et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
Sperling S et al.
Human Mutation, 2005
A gain-of-function mutation in CITED2 is associated with congenital heart disease.
Yadav ML et al.
Mutation Research, 0
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