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Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1 (S858R) Schinzel Giedion Syndrome mice

Schinzel Giedion Syndrome (SGS) is an ultra‐rare autosomal dominant Mendelian disease presenting with abnormalities spanning multiple organ systems. The most notable phenotypes involve severe developmental delay, progressive brain atrophy, and drug‐resistant seizures. SGS is caused by spontaneous va...

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Detalles Bibliográficos
Autores principales: Whitlock, Jordan H., Soelter, Tabea M., Howton, Timothy C., Wilk, Elizabeth J., Oza, Vishal H., Lasseigne, Brittany N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660642/
https://www.ncbi.nlm.nih.gov/pubmed/37872881
http://dx.doi.org/10.1111/jcmm.18001