Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt–Oram syndrome

The proband with congenital heart disease and abnormal thumb was clinically diagnosed as Holt–Oram syndrome (HOS). A novel variant, T‐box transcription factor 5 (TBX5) c.755 + 1 G > A, was identified in the proband via whole exome sequencing and validated using Sanger sequencing. Pedigree analysi...

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Detalles Bibliográficos
Autores principales: Wang, De‐Gang, Dong, Xing‐Sheng, Xiong, Yi, Li, Zhi‐Ming, Xie, Ying‐Jun, Liang, Shu‐Hua, Huang, Tian‐Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290998/
https://www.ncbi.nlm.nih.gov/pubmed/34490705
http://dx.doi.org/10.1002/ajmg.a.62488

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290998/
https://www.ncbi.nlm.nih.gov/pubmed/34490705
http://dx.doi.org/10.1002/ajmg.a.62488

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