Publications by authors named "Aren Elizabeth Marshall"
Neurol Genet
October 2023
Article Synopsis
- Scientists studied a girl with many health problems, like weakness and breathing issues, but they didn't know the cause.
- They used advanced DNA testing to find changes in her genes, discovering two specific variants linked to her condition.
- These changes affected how a key gene called SOX8 works, leading to problems that explained her symptoms and showed how complex our genes can be.
