A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( NFIX ) Gene Has Phenotypic Features of Marshall‐Smith Syndrome

The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall–Smith syndrome (MSS). NFIX mutations associated with MA...

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Detalles Bibliográficos
Autores principales: Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D.M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J.H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C., Thakker, Rajesh V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241085/
https://www.ncbi.nlm.nih.gov/pubmed/37283649
http://dx.doi.org/10.1002/jbm4.10739

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241085/
https://www.ncbi.nlm.nih.gov/pubmed/37283649
http://dx.doi.org/10.1002/jbm4.10739

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