Mitochondrial Function in 22q11 Deletion Syndrome.
Neuron(2019)
摘要
Copy number variant disorders arise from altering the dosage of multiple contiguous genes. In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome.
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