Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice

Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While r...

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Detalles Bibliográficos
Autores principales: Zhang, Honghao, Kamiya, Nobuhiro, Tsuji, Takehito, Takeda, Haruko, Scott, Greg, Rajderkar, Sudha, Ray, Manas K., Mochida, Yoshiyuki, Allen, Benjamin, Lefebvre, Veronique, Hung, Irene H., Ornitz, David M., Kunieda, Tetsuo, Mishina, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189957/
https://www.ncbi.nlm.nih.gov/pubmed/28027321
http://dx.doi.org/10.1371/journal.pgen.1006510

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