Small Patella Syndrome Latest Advances
Find the Latest Research About Small Patella Syndrome
Last Updated: 06/30/2026
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Found 38 publications
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders.
Journal: Human genomics
Published: February 12, 2026
Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene.
Journal: Stem cell research
Published: August 22, 2025
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
Multifaceted role of T-box transcription factor 4: From embryonic development to disease pathogenesis.
Journal: Genes & diseases
Published: February 04, 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
Last Updated: 06/30/2026