Case report: Novel TBX5-related pathogenic mechanism of Holt–Oram syndrome

Introduction: Holt–Oram syndrome (HOS) is a rare genetic disorder characterized by upper limb abnormalities, congenital heart defects, and/or conduction abnormalities. Sequence alteration of T-box transcription factor 5 (TBX5) is correlated with the incidence of HOS. Case description: We present the...

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Detalles Bibliográficos
Autores principales: Lang, Yuheng, Zheng, Yue, Qi, Bingcai, Zheng, Weifeng, Zhao, Chengxiu, Zhai, Hu, Wang, Gang, Luo, Zhiqiang, Li, Tong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014717/
https://www.ncbi.nlm.nih.gov/pubmed/36936432
http://dx.doi.org/10.3389/fgene.2023.1063202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014717/
https://www.ncbi.nlm.nih.gov/pubmed/36936432
http://dx.doi.org/10.3389/fgene.2023.1063202

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