Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man

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 det...

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Detalles Bibliográficos
Autores principales: Shrivastava, Sanskriti, Kruisselbrink, Teresa M., Mohananey, Akanksha, Thomas, Brittany C., Kushwaha, Sudhir S., Pereira, Naveen L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446047/
https://www.ncbi.nlm.nih.gov/pubmed/34557690
http://dx.doi.org/10.1016/j.jaccas.2021.05.019
Descripción
Sumario: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.)

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