• A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
• 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
• Genetics of patella hypoplasia/agenesis
• Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
• Identification and Functional Evaluation of a Novel <em>TBX4</em> Mutation Underlies Small Patella Syndrome
• Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders
• Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)
• Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome
• Phenotype and outcome of pulmonary arterial hypertension patients carrying a <em>TBX4</em> mutation
• Scott-Taor syndrome
• Scott-Taor Syndrome: A Clinical Case Report
• Small patella syndrome
• Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome
• Small patella syndrome: New clinical and molecular insights into a consistent phenotype
• TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension