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Article 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 () gene, currently not included in commercial gene panel, was detected in an adult with pulmonary arterial hypertension and absent patellae. .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446047 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2021.05.019 | DOI Listing |
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