Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

BACKGROUND: TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Although the haploinsufficiency of TBX1 in both mice and humans results in congenital cardiac malformations, little has been...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Jiang, Xuechao, Li, Tingting, Liu, Sijie, Fu, Qihua, Li, Fen, Chen, Sun, Sun, Kun, Xu, Rang, Xu, Yuejuan
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8325851/
https://ncbi.nlm.nih.gov/pubmed/34332615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01981-4
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