A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome

We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Prev...

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Detalles Bibliográficos
Autores principales: Al-Qattan, Mohammad M., Al-Shaar, Hussam Abou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549596/
https://www.ncbi.nlm.nih.gov/pubmed/26219450
http://dx.doi.org/10.15537/smj.2015.8.11891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549596/
https://www.ncbi.nlm.nih.gov/pubmed/26219450
http://dx.doi.org/10.15537/smj.2015.8.11891

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