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Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway

BACKGROUND: Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal‐dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations. However, the causes underlying polydactyly and syndactyly are not well understood. METHODS: We con...

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Detalles Bibliográficos
Autores principales:	Shen, Xiaofang, Zhang, Shun, Zhang, Xin, Zhou, Taifeng, Rui, Yongjun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000928/ https://www.ncbi.nlm.nih.gov/pubmed/35218158 http://dx.doi.org/10.1002/mgg3.1895

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