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WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood. Here, we report that WDR11 modulates the Hedgehog...

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Detalles Bibliográficos
Autores principales: Kim, Yeon‐Joo, Osborn, Daniel PS, Lee, Ji‐Young, Araki, Masatake, Araki, Kimi, Mohun, Timothy, Känsäkoski, Johanna, Brandstack, Nina, Kim, Hyun‐Taek, Miralles, Francesc, Kim, Cheol‐Hee, Brown, Nigel A, Kim, Hyung‐Goo, Martinez‐Barbera, Juan Pedro, Ataliotis, Paris, Raivio, Taneli, Layman, Lawrence C, Kim, Soo‐Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797970/
https://www.ncbi.nlm.nih.gov/pubmed/29263200
http://dx.doi.org/10.15252/embr.201744632