Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
| Autor: | Sudhir S. Kushwaha, Sanskriti Shrivastava, Akanksha Mohananey, Naveen L. Pereira, Brittany C. Thomas, Teresa M. Kruisselbrink |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
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 |
| Zdroj: | JACC Case Reports |
| ISSN: | 2666-0849 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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