Cargando…
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communica...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove Medical Press
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260184/ https://www.ncbi.nlm.nih.gov/pubmed/30538526 http://dx.doi.org/10.2147/TACG.S183418 |