Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in theTBX5 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)
2. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
3. Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype
4. T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung
5. FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS
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1. When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome;The Egyptian Heart Journal;2024-09-02
2. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis;Congenital Anomalies;2023-12-07
3. Holt-Oram Syndrome with Pulmonary Involvement—A Valuable Algorithm to Follow;Indian Journal of Radiology and Imaging;2023-11-23
4. Clinical outcomes of pulmonary agenesis: A systematic review of the literature;Pediatric Pulmonology;2022-09-16
5. Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome;American Journal of Medical Genetics Part A;2020-05-25
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