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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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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 |