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Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome

The study of rare genetic diseases provides valuable insights into human gene function. The autosomal dominant or autosomal recessive forms of Robinow syndrome are genetically heterogeneous, and the common theme is that all the mutations lie in genes in Wnt signaling pathways. Cases diagnosed with R...

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Detalles Bibliográficos
Autores principales: Gignac, Sarah J., MacCharles, Katja R., Fu, Katherine, Bonaparte, Kywana, Akarsu, Gamze, Barrett, Thalia W., Verheyen, Esther M., Richman, Joy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120075/
https://www.ncbi.nlm.nih.gov/pubmed/36916233
http://dx.doi.org/10.1242/dmm.049844