1. Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
- Author
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Sudhir S. Kushwaha, Sanskriti Shrivastava, Akanksha Mohananey, Naveen L. Pereira, Brittany C. Thomas, and Teresa M. Kruisselbrink
- Subjects
musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,Small patella syndrome ,business.industry ,TBX-4 ,small patella syndrome ,Case Report ,musculoskeletal system ,RV, right ventricle ,Clinical Case ,SPS, small patella syndrome ,medicine ,next-generation sequencing ,PAH, pulmonary arterial hypertension ,TBX-4, T-box transcription factor-4 ,Cardiology and Cardiovascular Medicine ,business ,human activities ,pulmonary artery hypertension - Abstract
Small patella syndrome presents with small or absent patellae and may result in pulmonary arterial hypertension, typically in children. A pathogenic canonical splice site variant, c.1021+1G>A in the T-box transcription factor 4 (TBX4) gene, currently not included in commercial gene panel, was detected in an adult with pulmonary arterial hypertension and absent patellae. (Level of Difficulty: Advanced.), Central Illustration
- Published
- 2021