Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome

BACKGROUND: Nuclear Factor One X (NFIX) haploinsufficiency in humans results in Malan syndrome, a disorder characterized by overgrowth, macrocephaly and intellectual disability. Although clinical assessments have determined the underlying symptomology of Malan syndrome, the fundamental mechanisms co...

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Vydáno v:EBioMedicine
Hlavní autoři: Oishi, Sabrina, Harkins, Danyon, Kurniawan, Nyoman D., Kasherman, Maria, Harris, Lachlan, Zalucki, Oressia, Gronostajski, Richard M., Burne, Thomas H.J., Piper, Michael
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
Témata:
Research paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6354567/
https://ncbi.nlm.nih.gov/pubmed/30503862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2018.11.044
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