Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome

Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a novel TBX4 mutation c.1241C>T (p.P414L) was identified in a SPS family and ser...

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Detalles Bibliográficos
Autores principales: Li, Ping, Lan, Wenli, Li, Jiaying, Zhang, Yanping, Xiong, Qiuhong, Ye, Jinpei, Wu, Changxin, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875086/
https://www.ncbi.nlm.nih.gov/pubmed/35216193
http://dx.doi.org/10.3390/ijms23042075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875086/
https://www.ncbi.nlm.nih.gov/pubmed/35216193
http://dx.doi.org/10.3390/ijms23042075

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