Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse

Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome. To determine if the mouse can serve as a model for uncovering th...

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Detalles Bibliográficos
Autores principales: Beauchamp, Marie-Claude, Djedid, Anissa, Daupin, Kevin, Clokie, Kayla, Kumar, Shruti, Majewski, Jacek, Jerome-Majewska, Loydie Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611600/
https://www.ncbi.nlm.nih.gov/pubmed/31276534
http://dx.doi.org/10.1371/journal.pone.0219280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611600/
https://www.ncbi.nlm.nih.gov/pubmed/31276534
http://dx.doi.org/10.1371/journal.pone.0219280

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