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Last Updated: 01/07/2026
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Found 35 publications
Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.
Journal: Journal of orthopaedic case reports
Published: June 09, 2025
4in1 Procedure in Treating Congenital Dislocation of Patella in Children.
Journal: Orthopaedic surgery
Published: March 11, 2025
Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease.
Journal: Journal of applied genetics
Published: November 14, 2024
Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.
Journal: Arthroplasty today
Published: September 02, 2022
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.
Journal: International journal of molecular sciences
Published: January 07, 2022
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Journal: American journal of medical genetics. Part A
Published: October 01, 2021
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man.
Journal: JACC. Case reports
Published: April 05, 2021
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Journal: The European respiratory journal
Published: December 10, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Journal: American journal of human genetics
Published: July 18, 2019
Last Updated: 01/07/2026