Holt Oram syndrome in a pediatric patient

https://doi.org/10.36109/rmg.v161i4.551
Holt Oram syndrome TBX5 gene mutation congenital heart disease

Authors

  • Irwing Rivera
    irwinrivera1904@gmail.com
    Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Melissa Linares Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Isabel Galdámez Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
  • Celia Martínez Departamento de Pediatría, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
Vol. 161 No. 4: October - December, 2022
Case Report
June 19, 2022
December 11, 2022

Holt Oram syndrome is an autosomal dominant disorder. It is characterized by skeletal abnormalities, structural cardiac abnormalities, and cardiac conduction alterations. These abnormalities are secondary to mutations in the TBX5 gene, which is res

How to Cite

Holt Oram syndrome in a pediatric patient. (2022). Revista médica (Colegio De Médicos Y Cirujanos De Guatemala), 161(4), 428-431. https://doi.org/10.36109/rmg.v161i4.551