ArticleSaudi medical journal2015
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Article in Saudi medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts.NAR genomics and bioinformatics · 2021Article
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- The Undetermined Destiny of Case Reports in the Era of Sophisticated Medicine.World neurosurgery · 2017Article
- Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.Journal of clinical and diagnostic research : JCDR · 2017Article
- TBX5: A Key Regulator of Heart Development.Current topics in developmental biology · 2017Review
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
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Abstract
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. Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and their phenotypes were compared with the phenotype of our patient.
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