Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
|
| Materias: | |
| 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 |