Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract

Synpolydactyly (SPD) is caused by mutations in the transcription factor gene HOXD13. Such mutations include polyalanine expansion (PAE), but further study is required for the phenotypic spectrum characteristics of HOXD13 PAE. We investigated four unrelated Chinese families with significant limb malf...

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Detalles Bibliográficos
Autores principales: Chen, Xiumin, Zhao, Feiyue, Xu, Yiming, Cao, Yixuan, Li, Shan, Zhang, Xue, Zhao, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073534/
https://www.ncbi.nlm.nih.gov/pubmed/37035736
http://dx.doi.org/10.3389/fgene.2023.1105046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073534/
https://www.ncbi.nlm.nih.gov/pubmed/37035736
http://dx.doi.org/10.3389/fgene.2023.1105046

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