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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Saudi Medical Journal
2015
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| 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 |