Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes encoding components of the non-canonical Wnt signaling pathway. In contrast, germline mutations that act to increase canonical Wnt signaling lead to distinctive osteosclerotic p...

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Publicado en:Am J Hum Genet
Autores principales: Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385193/
https://ncbi.nlm.nih.gov/pubmed/25817014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.010
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