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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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
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author Shrivastava, Sanskriti
Kruisselbrink, Teresa M.
Mohananey, Akanksha
Thomas, Brittany C.
Kushwaha, Sudhir S.
Pereira, Naveen L.
author_facet Shrivastava, Sanskriti
Kruisselbrink, Teresa M.
Mohananey, Akanksha
Thomas, Brittany C.
Kushwaha, Sudhir S.
Pereira, Naveen L.
author_sort Shrivastava, Sanskriti
collection PubMed
description 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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spelling pubmed-84460472021-09-22 Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man Shrivastava, Sanskriti Kruisselbrink, Teresa M. Mohananey, Akanksha Thomas, Brittany C. Kushwaha, Sudhir S. Pereira, Naveen L. JACC Case Rep Case Report 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.) Elsevier 2021-09-15 /pmc/articles/PMC8446047/ /pubmed/34557690 http://dx.doi.org/10.1016/j.jaccas.2021.05.019 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Shrivastava, Sanskriti
Kruisselbrink, Teresa M.
Mohananey, Akanksha
Thomas, Brittany C.
Kushwaha, Sudhir S.
Pereira, Naveen L.
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title_full Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title_fullStr Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title_full_unstemmed Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title_short Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
title_sort rare tbx4 variant causing pulmonary arterial hypertension with small patella syndrome in an adult man
topic Case Report
url 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
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