A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway

Polydactyly and syndactyly are congenital limb malformations that may occur either as non-syndromic or syndromic forms. In the present study, massively parallel sequencing was performed on a proband in a four-generation family with polydactyly and syndactyly to identify disease-causing variant(s). A...

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Detalles Bibliográficos
Autores principales: Xiang, Ying, Li, Xiaoliang, Zhan, Zhiyan, Feng, Jue, Cai, Haiqing, Li, Yanxin, Fu, Qihua, Xu, Yunlan, Jiang, Hong, Zhang, Xiaoqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693554/
https://www.ncbi.nlm.nih.gov/pubmed/33304378
http://dx.doi.org/10.3389/fgene.2020.542004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693554/
https://www.ncbi.nlm.nih.gov/pubmed/33304378
http://dx.doi.org/10.3389/fgene.2020.542004

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