A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome

INTRODUCTION: Small patella syndrome (SPS) is a rare skeletal dysplasia relating to the T-box protein 4 (TBX4) gene, which regulates the development of lower extremities. Patients typically present with recurrent patellar dislocation (RPD) in childhood or adolescence, leading to a diagnosis of SPS a...

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Detalles Bibliográficos
Autores principales: Oda, Tomoyuki, Matsushita, Masaki, Ono, Yohei, Kitoh, Hiroshi, Sakai, Tadahiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Indian Orthopaedic Research Group 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974686/
https://www.ncbi.nlm.nih.gov/pubmed/29854702
http://dx.doi.org/10.13107/jocr.2250-0685.1012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974686/
https://www.ncbi.nlm.nih.gov/pubmed/29854702
http://dx.doi.org/10.13107/jocr.2250-0685.1012

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